Glucose-6-Phosphatase
Das G6PC-Gen kodiert die Glucose-6-Phosphatase, ein wichtiges Enzym des Glykogenabbaus. Mutationen rufen die autosomal rezessive Erkrankung Morbus von Gierke hervor.
Diagnostik:
Krankheiten:
Referenzen:
1. |
Hussain SP et. al. (2000) Increased p53 mutation load in nontumorous human liver of wilson disease and hemochromatosis: oxyradical overload diseases.
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2. |
None (1979) Genetic control of morphogenetic and biochemical differentiation: lethal albino deletions in the mouse.
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3. |
None (1979) Abstracts of meeting presentations.
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4. |
Tedesco TA et. al. (1975) The genetic defect in galactosemia.
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5. |
Kaufman F et. al. (1979) Ovarian failure in galactosaemia.
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6. |
Weinberg AG et. al. (1976) The occurrence of hepatoma in the chronic form of hereditary tyrosinemia.
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7. |
Litchfield WJ et. al. (1978) Effect of galactose on free radical reactions of polymorphonuclear leukocytes.
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8. |
Fisch RO et. al. (1978) Homotransplantation of the liver in a patient with hepatoma and hereditary tyrosinemia.
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9. |
Mohandas T et. al. (1978) Assignment of GALT to chromosome 9 and regional localization of GALT, AK1, AK3, and ACONS on chromosome 9.
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10. |
Westerveld A et. al. (1978) Regional localization of the genes coding for human red cell adenylate kinase, aconitase, and galactose-1-phosphate uridylyltransferase on chromosome 9.
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11. |
Lindblad B et. al. (1977) On the enzymic defects in hereditary tyrosinemia.
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12. |
Mohandas T et. al. (1977) Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids.
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13. |
Mohandas T et. al. (1979) Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.
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14. |
Levy HL et. al. (1977) Sepsis due to Escherichia coli in neonates with galactosemia.
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15. |
Ibarra B et. al. (1979) Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family.
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16. |
Tedesco TA et. al. (1979) Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency.
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17. |
Benson PF et. al. (1979) Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus.
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18. |
Wharton CH et. al. (1978) Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote.
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19. |
Bruns GA et. al. (1978) Expression of ACONS and GALT in man-rodent somatic cell hybrids.
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20. |
Meera Khan P et. al. (1978) Assignment of a human galactose-1-phosphate uridylyltransferase gene (GALT1) to chromosome 9 in human-Chinese hamster somatic cell hybrids.
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21. |
Sun NC et. al. (1977) Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase.
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22. |
Scherz R et. al. (1976) A new genetic variant of galactose-1-phosphate uridyl transferase.
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23. |
Hammersen G et. al. (1975) Rennes-like variant of galactosemia: clinical and biochemical studies.
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24. |
Holme E et. al. (1992) Neonatal screen for hereditary tyrosinaemia type I.
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25. |
Lindstedt S et. al. (1992) Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase.
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26. |
Phaneuf D et. al. (1992) Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.
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27. |
Sokal EM et. al. (1992) Liver transplantation for hereditary tyrosinemia--early transplantation following the patient's stabilization.
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28. |
Gitzelmann R et. al. (1992) Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii.
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29. |
Kvittingen EA et. al. (1992) Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein.
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30. |
Reichardt JK et. al. (1992) Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.
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31. |
Waggoner DD et. al. (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases.
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32. |
Reichardt JK et. al. (1991) Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.
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33. |
Phaneuf D et. al. (1991) Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.
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34. |
Reichardt JK et. al. (1991) Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.
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35. |
Mitchell G et. al. (1990) Neurologic crises in hereditary tyrosinemia.
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36. |
Flach JE et. al. (1990) Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.
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37. |
De Braekeleer M et. al. (1990) Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean.
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38. |
Tanguay RM et. al. (1990) Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).
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39. |
Russo P et. al. (1990) Visceral pathology of hereditary tyrosinemia type I.
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40. |
Laberge C et. al. (1990) Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I.
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41. |
Paradis K et. al. (1990) Liver transplantation for hereditary tyrosinemia: the Quebec experience.
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42. |
Brivet M et. al. (1989) Lens hexitols and cataract formation during lactation in a woman heterozygote for galactosaemia.
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43. |
Dehner LP et. al. (1989) Hereditary tyrosinemia type I (chronic form): pathologic findings in the liver.
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44. |
van Spronsen FJ et. al. (1989) Tyrosinaemia type I: orthotopic liver transplantation as the only definitive answer to a metabolic as well as an oncological problem.
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45. |
Tuchman M et. al. (1985) Persistent succinylacetone excretion after liver transplantation in a patient with hereditary tyrosinaemia type I.
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46. |
Brivet M et. al. (1989) Effect of lactation in a mother with galactosemia.
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47. |
Reichardt JK et. al. (1988) Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.
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48. |
Holme E et. al. (1985) Possibilities for treatment and for early prenatal diagnosis of hereditary tyrosinaemia.
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49. |
Pettit BR et. al. (1985) Early prenatal diagnosis of hereditary tyrosinaemia.
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50. |
Kvittingen EA et. al. (1986) Liver transplantation in a 23-year-old tyrosinaemia patient: effects on the renal tubular dysfunction.
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51. |
Kvittingen EA et. al. (1986) Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material.
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52. |
Kvittingen EA et. al. (1985) Deficiency of fumarylacetoacetase without hereditary tyrosinemia.
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53. |
Harley JD et. al. (1974) Maternal enzymes of galactose metabolism and the "inexplicable" infantile cataract.
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54. |
Tedesco TA et. al. (1974) Assignment of the human gene for hexose-1-phosphate uridylyltransferase to chromosome 3.
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55. |
Whelan DT et. al. (1974) Microassay of tyrosine-amino transferase and p-hydroxyphenylpyruvic acid oxidase in mammalian liver and patients with hereditary tyrosinemia.
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56. |
Gaull GE et. al. (1968) Significance of hypermethionaemia in acute tyrosinosis.
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57. |
None (1967) The enzymatic deficiency in tyrosinemia.
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58. |
Gaull GE et. al. (1970) Biochemical observations on so-called hereditary tyrosinemia.
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59. |
Sun NC et. al. (1974) Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.
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60. |
Hill HZ et. al. (1973) Detection of inborn errors of metabolism: galactosemia.
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61. |
Bergren WG et. al. (1973) A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant.
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62. |
Shih VE et. al. (1971) Galactosemia screening of newborns in Massachusetts.
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63. |
Tedesco TA et. al. (1971) Galactosemia: evidence for a structural gene mutation.
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64. |
Kelly S et. al. (1972) A Duarte variant with clinical signs.
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65. |
Haschemian G et. al. (1972) [A family with galactosemia and "Duarte variant"].
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66. |
Nadler HL et. al. (1970) Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity.
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67. |
None (1967) Clinical variants of galactosemia.
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68. |
Kang ES et. al. (1970) Hereditary tyrosinemia and abnormal pyrrole metabolism.
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69. |
Gitzelmann R et. al. (1967) Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.
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70. |
Sparkes RS et. al. (1968) Galactosemia in a 24-year-old man; detection by enzyme studies.
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71. |
None (1969) Hereditary tyrosinemia in a French Canadian isolate.
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72. |
Cuatrecasas P et. al. (1966) Galactose conversion to D-xylulose: an alternate route of galactose metabolism.
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73. |
Halvorsen S et. al. (1966) Tyrosinosis. A study of 6 cases.
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74. |
Scriver CR et. al. (1967) Hereditary tyrosinemia and tyrosyluria in a French Canadian geographic isolate.
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75. |
Vaccaro AM et. al. (1984) Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families.
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76. |
Shih LY et. al. (1984) Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9.
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77. |
Hostetter MK et. al. (1983) Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia.
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78. |
Eriksen B et. al. (1980) Human red cell galactose-1-phosphate uridylyltransferase (EC 2.7.7.12). Electrophoretically determined polymorphism in Denmark and its use in paternity cases.
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79. |
Lang A et. al. (1980) A new variant of galactosemia: galactose-1-phosphate uridylytransferase sensitive to product inhibition by glucose 1-phosphate.
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80. |
Sparkes RS et. al. (1980) Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh.
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81. |
Mulcahy MT et. al. (1980) Where is the gene for GALT?
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82. |
Sparkes RS et. al. (1980) Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen leads to 9p22.
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83. |
Eydoux P et. al. (1981) Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination.
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84. |
Dagna Bricarelli F et. al. (1981) Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band.
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85. |
Kelley RI et. al. (1983) Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing.
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86. |
Xu YK et. al. (1983) Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese.
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87. |
Andersen MW et. al. (1984) Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants.
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88. |
Andersen MW et. al. (1983) Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells.
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89. |
Gartner JC et. al. (1984) Orthotopic liver transplantation in children: two-year experience with 47 patients.
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90. |
Robinson AC et. al. (1984) Hypergonadotrophic hypogonadism in classical galactosaemia: evidence for defective oogenesis. Case report.
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91. |
Kvittingen EA et. al. (1983) Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia.
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92. |
Garcia-Cruz D et. al. (1982) Tetrasomy 9p: clinical aspects and enzymatic gene dosage expression.
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93. |
Urbanowski JC et. al. (1982) Nonenzymatically galactosylated serum albumin in a galactosemic infant.
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94. |
Gagné R et. al. (1982) Prenatal diagnosis of hereditary tyrosinaemia: measurement of succinylacetone in amniotic fluid.
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95. |
Kvittingen EA et. al. (1981) Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia.
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96. |
Malpuech G et. al. (1981) [Association, in the same subject, of deletion of the short arm of chromosome 4 (4p-) and of complete deficiency of parahydroxyphenyl-pyruvate oxidase activity in the liver (tyrosinosis)].
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97. |
Reed V et. al. (1995) Mapping of the mouse homologue of the Wilson disease gene to mouse chromosome 8.
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98. |
Grompe M et. al. (1995) Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I.
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99. |
Ashino J et. al. (1995) Molecular characterization of galactosemia (type 1) mutations in Japanese.
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100. |
Hahn SH et. al. (1995) Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
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101. |
Laine J et. al. (1995) The nephropathy of type I tyrosinemia after liver transplantation.
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102. |
Thomas GR et. al. (1995) The Wilson disease gene: spectrum of mutations and their consequences.
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103. |
Houwen RH et. al. (1995) H714Q mutation in Wilson disease is associated with late, neurological presentation.
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104. |
Thomas GR et. al. (1995) Wilson disease in Iceland: a clinical and genetic study.
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105. |
St-Louis M et. al. (1995) Two novel mutations involved in hereditary tyrosinemia type I.
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106. |
Thomas GR et. al. (1995) Haplotypes and mutations in Wilson disease.
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107. |
Dijkstra M et. al. (1995) Adenosine triphosphate-dependent copper transport in isolated rat liver plasma membranes.
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108. |
Petrukhin K et. al. (1994) Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions.
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109. |
Lin HC et. al. (1995) Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations.
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110. |
Elsas LJ et. al. (1995) Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
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111. |
Demers SI et. al. (1994) Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.
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112. |
Kvittingen EA et. al. (1994) Self-induced correction of the genetic defect in tyrosinemia type I.
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113. |
Rootwelt H et. al. (1994) Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.
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114. |
Grompe M et. al. (1994) A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.
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115. |
Sasaki N et. al. (1994) The gene responsible for LEC hepatitis, located on rat chromosome 16, is the homolog to the human Wilson disease gene.
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116. |
St-Louis M et. al. (1994) Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.
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117. |
Elsas LJ et. al. (1994) A common mutation associated with the Duarte galactosemia allele.
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118. |
Grompe M et. al. (1993) Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice.
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119. |
Bull PC et. al. (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.
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120. |
Tanzi RE et. al. (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.
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121. |
Grompe M et. al. (1993) Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.
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122. |
Labelle Y et. al. (1993) Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.
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123. |
Schweitzer S et. al. (1993) Long-term outcome in 134 patients with galactosaemia.
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124. |
Kvittingen EA et. al. (1993) Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
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125. |
Reichardt JK et. al. (1993) Molecular characterization of the H319Q galactosemia mutation.
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126. |
Figus A et. al. (1995) Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
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127. |
Lai K et. al. (1996) A prevalent mutation for galactosemia among black Americans.
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128. |
None (1996) Round two for liver gene therapy.
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129. |
Overturf K et. al. (1996) Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I.
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130. |
Elsevier JP et. al. (1996) Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.
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131. |
Timmers C et. al. (1996) Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.
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132. |
St-Louis M et. al. (1996) Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation.
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133. |
Rootwelt H et. al. (1996) Fumarylacetoacetase mutations in tyrosinaemia type I.
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134. |
Ninfali P et. al. (1996) Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.
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135. |
Podskarbi T et. al. (1996) Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.
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136. |
Elsevier JP et. al. (1996) The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.
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137. |
Levy HL et. al. (1996) Vitreous hemorrhage as an ophthalmic complication of galactosemia.
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138. |
Langley SD et. al. (1997) Molecular basis for Duarte and Los Angeles variant galactosemia.
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139. |
Overturf K et. al. (1997) Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I.
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140. |
St-Louis M et. al. (1997) Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
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141. |
Greber-Platzer S et. al. (1997) Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
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142. |
Endo F et. al. (1997) Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway.
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143. |
Yang XL et. al. (1997) Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments.
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144. |
Shah AB et. al. (1997) Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
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145. |
Terada K et. al. (1998) Restoration of holoceruloplasmin synthesis in LEC rat after infusion of recombinant adenovirus bearing WND cDNA.
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146. |
Kim EK et. al. (1998) Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
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147. |
Magrangeas F et. al. (1998) Cotranscription and intergenic splicing of human galactose-1-phosphate uridylyltransferase and interleukin-11 receptor alpha-chain genes generate a fusion mRNA in normal cells. Implication for the production of multidomain proteins during evolution.
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148. |
Loudianos G et. al. (1998) Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
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149. |
Kubo S et. al. (1998) Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors.
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150. |
Poudrier J et. al. (1998) Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.
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151. |
Payne AS et. al. (1998) Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.
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152. |
Holme E et. al. (1998) Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione).
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153. |
Prieto-Alamo MJ et. al. (1998) Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I.
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154. |
Duc HH et. al. () His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.
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155. |
Tyfield L et. al. (1999) Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
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156. |
Kozák L et. al. (1999) Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.
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157. |
Murphy M et. al. (1999) Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.
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158. |
de Jongh S et. al. (1999) Spontaneous pregnancy in a patient with classical galactosaemia.
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159. |
Loudianos G et. al. (1999) Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
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160. |
Ruiz M et. al. (1999) Galactosaemia presenting as congenital pseudoafibrinogenaemia.
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161. |
Kusuda Y et. al. (2000) Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.
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162. |
Okada T et. al. (2000) Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
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163. |
None (2000) Cellular copper transport and metabolism.
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164. |
Forbes JR et. al. (2000) Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.
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165. |
Wilson DC et. al. (2000) Severe hepatic Wilson's disease in preschool-aged children.
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166. |
García-Villarreal L et. al. (2000) High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study.
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167. |
La Fontaine S et. al. (2001) Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase.
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168. |
Kim SZ et. al. (2000) Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
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169. |
Aponte JL et. al. (2001) Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.
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170. |
Loudianos G et. al. (2000) Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.
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171. |
Elsas LJ et. al. () The molecular biology of galactosemia.
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172. |
Elsas LJ et. al. (2001) Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.
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173. |
Wu ZY et. al. (2001) Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.
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174. |
Trbusek M et. al. (2001) Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.
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175. |
Suzuki M et. al. (2001) Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.
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176. |
Jorquera R et. al. (2001) Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability.
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177. |
Firneisz G et. al. (2002) Common mutations of ATP7B in Wilson disease patients from Hungary.
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178. |
Arranz JA et. al. (2002) Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.
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179. |
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181. |
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185. |
None (1963) TYROSINOSIS.
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186. |
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191. |
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192. |
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193. |
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194. |
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195. |
Bliksrud YT et. al. (2005) Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.
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196. |
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197. |
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198. |
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199. |
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200. |
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201. |
Gromadzka G et. al. (2005) Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.
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202. |
Lim CM et. al. (2006) Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A.
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203. |
None (2006) Classical galactosaemia revisited.
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204. |
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205. |
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206. |
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207. |
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208. |
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209. |
Luoma LM et. al. (2010) Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.
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210. |
Gourdon P et. al. (2011) Crystal structure of a copper-transporting PIB-type ATPase.
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211. |
Wang LH et. al. (2011) Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.
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212. |
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213. |
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214. |
None (1978) Diagnosis of treatable Wilson's disease.
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215. |
Gibbs K et. al. (1979) A study of the caeruloplasmin concentrations found in 75 patients with Wilson's disease, their kinships and various control groups.
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216. |
Wiebers DO et. al. (1979) Renal stones in Wilson's disease.
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217. |
Frommer D et. al. (1977) Kayser-Fleischer-like rings in patients without Wilson's disease.
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218. |
Dobyns WB et. al. (1979) Clinical spectrum of Wilson's disease (hepatolenticular degeneration).
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219. |
Passwell J et. al. (1977) Heterogeneity of Wilson's disease in Israel.
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220. |
Fitzgerald MA et. al. (1975) Wilson's disease (hepatolenticular degeneration) of late adult onset: report of case.
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221. |
Cossu P et. al. (1992) Prenatal diagnosis of Wilson's disease by analysis of DNA polymorphism.
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222. |
Scheffer H et. al. (1992) Identification of crossovers in Wilson disease families as reference points for a genetic localization of the gene.
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223. |
Li Y et. al. (1991) Spontaneous hepatic copper accumulation in Long-Evans Cinnamon rats with hereditary hepatitis. A model of Wilson's disease.
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224. |
Burchell A et. al. (1990) Diagnosis of a novel glycogen storage disease: type 1aSP.
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225. |
Houwen RH et. al. (1990) Close linkage of the Wilson's disease locus to D13S12 in the chromosomal region 13q21 and not to ESD in 13q14.
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226. |
Bonné-Tamir B et. al. (1990) Wilson's disease in Israel: a genetic and epidemiological study.
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227. |
Danks DM et. al. (1990) Wilson's disease in adults with cirrhosis but no neurological abnormalities.
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228. |
Figus A et. al. (1989) Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.
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229. |
Azizi E et. al. (1989) Hypercalciuria and nephrolithiasis as a presenting sign in Wilson disease.
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230. |
None (1988) Wilson's disease: yesterday, today, and tomorrow.
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231. |
None (1988) Remembering Kinnier Wilson.
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232. |
None (1988) Memories of my father [Kinnier Wilson].
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233. |
Yuzbasiyan-Gurkan V et. al. (1988) Linkage of the Wilson disease gene to chromosome 13 in North-American pedigrees.
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234. |
Farrer LA et. al. (1988) Predicting genotypes at loci for autosomal recessive disorders using linked genetic markers: application to Wilson's disease.
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235. |
Bowcock AM et. al. (1988) Eight closely linked loci place the Wilson disease locus within 13q14-q21.
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236. |
Polson RJ et. al. (1987) Reversal of severe neurological manifestations of Wilson's disease following orthotopic liver transplantation.
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237. |
Brewer GJ et. al. (1987) Treatment of Wilson's disease.
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238. |
Menerey KA et. al. (1988) The arthropathy of Wilson's disease: clinical and pathologic features.
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239. |
Bonné-Tamir B et. al. (1986) Evidence for linkage between Wilson disease and esterase D in three kindreds: detection of linkage for an autosomal recessive disorder by the family study method.
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240. |
Lingam S et. al. (1987) Neurological abnormalities in Wilson's disease are reversible.
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241. |
Czaja MJ et. al. (1987) Molecular studies of ceruloplasmin deficiency in Wilson's disease.
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242. |
Starosta-Rubinstein S et. al. (1987) Clinical assessment of 31 patients with Wilson's disease. Correlations with structural changes on magnetic resonance imaging.
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243. |
None (1987) Cardiac Wilson's disease.
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244. |
Frydman M et. al. (1985) Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.
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245. |
Sokol RJ et. al. (1985) Orthotopic liver transplantation for acute fulminant Wilson disease.
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246. |
Ross ME et. al. (1985) Late-onset Wilson's disease with neurological involvement in the absence of Kayser-Fleischer rings.
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247. |
Levi AJ et. al. (1967) Presymptomatic Wilson's disease.
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248. |
Strickland GT et. al. (1973) Wilson's disease in the United Kingdom and Taiwan. I. General characteristics of 142 cases and prognosis. II. A genetic analysis of 88 cases.
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249. |
Shokeir MH et. al. (1969) Cytochrome oxidase deficiency in Wilson's disease: a suggested ceruloplasmin function.
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250. |
None (1971) Investigations on the nature of ceruloplasmin deficiency in the newborn.
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251. |
Sternlieb I et. al. (1972) Chronic hepatitis as a first manifestation of Wilson's disease.
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252. |
Cox DW et. al. (1972) A genetic study of Wilson's disease: evidence for heterogeneity.
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253. |
Slovis TL et. al. (1971) The varied manifestations of Wilson's disease.
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254. |
Goldstein NP et. al. (1971) Wilson's disease (hepatolenticular degeneration). Treatment with penicillamine and changes in hepatic trapping of radioactive copper.
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255. |
Whelton MJ et. al. (1968) Azure lunules in Argyria. Corneal changes resembling Kayser-Fleischer Rings.
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256. |
Holtzman NA et. al. (1967) Ceruloplasmin in Wilson's disease.
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257. |
Hoogenraad TU et. al. (1983) 3 years of continuous oral zinc therapy in 4 patients with Wilson's disease.
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258. |
None (1983) Evaluation of segregation ratio in Wilson's disease.
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259. |
Carpenter TO et. al. (1983) Hypoparathyroidism in Wilson's disease.
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260. |
Owen CA et. al. (1982) Inherited copper toxicosis in Bedlington terriers: Wilson's disease (hepatolenticular degeneration).
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261. |
Factor SM et. al. (1982) The cardiomyopathy of Wilson's disease. Myocardial alterations in nine cases.
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262. |
Członkowska A et. al. (1981) Late onset of Wilson's disease. Report of a family.
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263. |
Gadoth N et. al. (1980) Transient external ophthalmoplegia in Wilson's disease.
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264. |
Lei KJ et. al. (1995) Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.
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265. |
Kajihara S et. al. (1995) Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan.
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266. |
Brody LC et. al. (1995) Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17.
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267. |
Hartard C et. al. (1994) Pregnancy in a patient with Wilson's disease treated with D-penicillamine and zinc sulfate. A case report and review of the literature.
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268. |
Devesa R et. al. (1995) Wilson's disease treated with trientine during pregnancy.
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269. |
None (1994) Dangers of interrupting decoppering treatment in Wilson's disease.
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270. |
Wu J et. al. (1994) The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene.
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271. |
Nakai K et. al. (1994) Construction of a novel database containing aberrant splicing mutations of mammalian genes.
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272. |
Lei KJ et. al. (1994) Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.
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273. |
Brewer GJ et. al. (1994) Treatment of Wilson's disease with zinc. XIII: Therapy with zinc in presymptomatic patients from the time of diagnosis.
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274. |
Lei KJ et. al. (1993) Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.
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275. |
Thomas GR et. al. (1994) Haplotype studies in Wilson disease.
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276. |
Lang CJ et. al. (1993) Fatal deterioration of Wilson's disease after institution of oral zinc therapy.
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277. |
Hoppe B et. al. (1993) Hypercalciuria and nephrocalcinosis, a feature of Wilson's disease.
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278. |
Petrukhin K et. al. (1993) Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.
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279. |
Kooy RF et. al. (1993) Physical localisation of the chromosomal marker D13S31 places the Wilson disease locus at the junction of bands q14.3 and q21.1 of chromosome 13.
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280. |
Shelly LL et. al. (1993) Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A.
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281. |
Yuzbasiyan-Gurkan V et. al. (1993) Linkage studies of the esterase D and retinoblastoma genes to canine copper toxicosis: a model for Wilson disease.
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282. |
van Wassenaer-van Hall HN et. al. () Cranial MR in Wilson disease: abnormal white matter in extrapyramidal and pyramidal tracts.
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283. |
Guarino M et. al. (1995) No neurological improvement after liver transplantation for Wilson's disease.
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284. |
Chevalier-Porst F et. al. (1996) Mutation analysis in 24 French patients with glycogen storage disease type 1a.
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285. |
None (1996) Treatment of Wilson's disease: the historical background.
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286. |
Theophilos MB et. al. (1996) The toxic milk mouse is a murine model of Wilson disease.
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287. |
Lee WJ et. al. (1996) Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family.
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288. |
Kuo YM et. al. (1997) Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters.
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289. |
Parvari R et. al. (1997) Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.
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290. |
Huang L et. al. (1997) A novel gene involved in zinc transport is deficient in the lethal milk mouse.
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291. |
Brewer GJ et. al. (1998) Treatment of Wilson's disease with zinc: XV long-term follow-up studies.
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292. |
van de Sluis BJ et. al. (1999) Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16.
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293. |
Stroppiano M et. al. (1999) Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.
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294. |
Chowrimootoo GF et. al. (1998) Caeruloplasmin isoforms in Wilson's disease in neonates.
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295. |
Ferlan-Marolt V et. al. (1999) Fulminant Wilsonian hepatitis unmasked by disease progression: report of a case and review of the literature.
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296. |
None (1999) Penicillamine: the treatment of first choice for patients with Wilson's disease.
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297. |
None (1999) Penicillamine should not be used as initial therapy in Wilson's disease.
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298. |
None (1999) Penicillamine as a controversial treatment for Wilson's disease.
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299. |
Buiakova OI et. al. (1999) Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation.
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300. |
Gow PJ et. al. (2000) Diagnosis of Wilson's disease: an experience over three decades.
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301. |
Akanuma J et. al. (2000) Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.
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302. |
Weston BW et. al. (2000) Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.
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303. |
Gu M et. al. (2000) Oxidative-phosphorylation defects in liver of patients with Wilson's disease.
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304. |
Firneisz G et. al. (2001) Postcremation diagnosis from an electric shaver.
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305. |
None (2001) Postcremation diagnosis.
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306. |
None (2001) Postcremation diagnosis.
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307. |
Olivarez L et. al. (2001) Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach.
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308. |
Hedera P et. al. (2002) White matter changes in Wilson disease.
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309. |
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310. |
Brewer GJ et. al. (2003) Treatment of Wilson disease with ammonium tetrathiomolybdate: III. Initial therapy in a total of 55 neurologically affected patients and follow-up with zinc therapy.
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311. |
Wu ZY et. al. (2003) Molecular diagnosis and prophylactic therapy for presymptomatic Chinese patients with Wilson disease.
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312. |
None (1956) Penicillamine, a new oral therapy for Wilson's disease.
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313. |
None (1960) A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration).
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314. |
LITIN RB et. al. (1959) Hypercalciuria in hepatolenticular degeneration (Wilson's disease).
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315. |
Ki CS et. al. (2004) Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.
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316. |
Ekstein J et. al. (2004) Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.
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317. |
Jung KH et. al. (2005) Wilson disease with an initial manifestation of polyneuropathy.
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318. |
Brewer GJ et. al. (2006) Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease.
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319. |
None (2006) Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.
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320. |
Lang PA et. al. (2007) Liver cell death and anemia in Wilson disease involve acid sphingomyelinase and ceramide.
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321. |
de Bie P et. al. (2007) Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
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322. |
Mak CM et. al. (2008) Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.
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323. |
Alvarez HM et. al. (2010) Tetrathiomolybdate inhibits copper trafficking proteins through metal cluster formation.
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Update: 23. Juni 2016