Die hepatorenalen Tyrosinämie ist eine autosomal rezessive Erkrankung die Durch eine Mutation im Tyrosinabbauweg hervorgerufen wird. Die renale Manifestation ist ein renotubuläres Fanconi-Syndrom.
Proximaler Tubulusschaden | |
Die renale Maniferstation der hepatorenalen Tyrosinämie ist ein tubuläres Fanconi-Syndrom. |
1. |
None (1979) Abstracts of meeting presentations. |
2. |
Tedesco TA et al. (1975) The genetic defect in galactosemia. |
3. |
Kaufman F et al. (1979) Ovarian failure in galactosaemia. |
4. |
Litchfield WJ et al. (1978) Effect of galactose on free radical reactions of polymorphonuclear leukocytes. |
5. |
Mohandas T et al. (1978) Assignment of GALT to chromosome 9 and regional localization of GALT, AK1, AK3, and ACONS on chromosome 9. |
6. |
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. |
7. |
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. |
8. |
Mohandas T et al. (1979) Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations. |
9. |
Levy HL et al. (1977) Sepsis due to Escherichia coli in neonates with galactosemia. |
10. |
Ibarra B et al. (1979) Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family. |
11. |
Tedesco TA et al. (1979) Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency. |
12. |
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. |
13. |
Wharton CH et al. (1978) Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote. |
14. |
Bruns GA et al. (1978) Expression of ACONS and GALT in man-rodent somatic cell hybrids. |
15. |
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. |
16. |
Sun NC et al. (1977) Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase. |
17. |
Scherz R et al. (1976) A new genetic variant of galactose-1-phosphate uridyl transferase. |
18. |
Hammersen G et al. (1975) Rennes-like variant of galactosemia: clinical and biochemical studies. |
19. |
Gitzelmann R et al. (1992) Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii. |
21. |
Waggoner DD et al. (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases. |
22. |
Reichardt JK et al. (1991) Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. |
23. |
Reichardt JK et al. (1991) Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. |
24. |
Flach JE et al. (1990) Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase. |
25. |
Brivet M et al. (1989) Lens hexitols and cataract formation during lactation in a woman heterozygote for galactosaemia. |
26. |
Brivet M et al. (1989) Effect of lactation in a mother with galactosemia. |
27. |
Reichardt JK et al. (1988) Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase. |
28. |
Harley JD et al. (1974) Maternal enzymes of galactose metabolism and the "inexplicable" infantile cataract. |
29. |
Tedesco TA et al. (1974) Assignment of the human gene for hexose-1-phosphate uridylyltransferase to chromosome 3. |
30. |
Sun NC et al. (1974) Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase. |
31. |
Hill HZ et al. (1973) Detection of inborn errors of metabolism: galactosemia. |
32. |
Bergren WG et al. (1973) A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant. |
33. |
Shih VE et al. (1971) Galactosemia screening of newborns in Massachusetts. |
34. |
Tedesco TA et al. (1971) Galactosemia: evidence for a structural gene mutation. |
35. |
Kelly S et al. (1972) A Duarte variant with clinical signs. |
36. |
Haschemian G et al. (1972) [A family with galactosemia and "Duarte variant"]. |
37. |
Nadler HL et al. (1970) Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity. |
38. |
None (1967) Clinical variants of galactosemia. |
39. |
Gitzelmann R et al. (1967) Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme. |
40. |
Sparkes RS et al. (1968) Galactosemia in a 24-year-old man; detection by enzyme studies. |
41. |
Cuatrecasas P et al. (1966) Galactose conversion to D-xylulose: an alternate route of galactose metabolism. |
42. |
Vaccaro AM et al. (1984) Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families. |
43. |
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. |
44. |
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. |
45. |
Lang A et al. (1980) A new variant of galactosemia: galactose-1-phosphate uridylytransferase sensitive to product inhibition by glucose 1-phosphate. |
46. |
Sparkes RS et al. (1980) Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh. |
47. |
Mulcahy MT et al. (1980) Where is the gene for GALT? |
48. |
Sparkes RS et al. (1980) Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen leads to 9p22. |
49. |
Eydoux P et al. (1981) Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination. |
50. |
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. |
51. |
Kelley RI et al. (1983) Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing. |
52. |
Xu YK et al. (1983) Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese. |
53. |
Andersen MW et al. (1984) Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants. |
54. |
Andersen MW et al. (1983) Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells. |
55. |
Robinson AC et al. (1984) Hypergonadotrophic hypogonadism in classical galactosaemia: evidence for defective oogenesis. Case report. |
56. |
Garcia-Cruz D et al. (1982) Tetrasomy 9p: clinical aspects and enzymatic gene dosage expression. |
57. |
Urbanowski JC et al. (1982) Nonenzymatically galactosylated serum albumin in a galactosemic infant. |
58. |
Ashino J et al. (1995) Molecular characterization of galactosemia (type 1) mutations in Japanese. |
59. |
Lin HC et al. (1995) Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations. |
60. |
Elsas LJ et al. (1995) Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. |
61. |
Elsas LJ et al. (1994) A common mutation associated with the Duarte galactosemia allele. |
62. |
Schweitzer S et al. (1993) Long-term outcome in 134 patients with galactosaemia. |
63. |
Reichardt JK et al. (1993) Molecular characterization of the H319Q galactosemia mutation. |
64. |
Lai K et al. (1996) A prevalent mutation for galactosemia among black Americans. |
65. |
Elsevier JP et al. (1996) Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase. |
66. |
Ninfali P et al. (1996) Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle. |
67. |
Podskarbi T et al. (1996) Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase. |
68. |
Elsevier JP et al. (1996) The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative. |
69. |
Levy HL et al. (1996) Vitreous hemorrhage as an ophthalmic complication of galactosemia. |
70. |
Langley SD et al. (1997) Molecular basis for Duarte and Los Angeles variant galactosemia. |
71. |
Greber-Platzer S et al. (1997) Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. |
73. |
Tyfield L et al. (1999) Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. |
74. |
Kozák L et al. (1999) Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles. |
75. |
Murphy M et al. (1999) Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers. |
76. |
de Jongh S et al. (1999) Spontaneous pregnancy in a patient with classical galactosaemia. |
77. |
Ruiz M et al. (1999) Galactosaemia presenting as congenital pseudoafibrinogenaemia. |
78. |
Elsas LJ et al. () The molecular biology of galactosemia. |
79. |
Elsas LJ et al. (2001) Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia. |
80. |
Trbusek M et al. (2001) Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency. |
81. |
Suzuki M et al. (2001) Large-scale molecular screening for galactosemia alleles in a pan-ethnic population. |
82. |
Webb AL et al. (2003) Verbal dyspraxia and galactosemia. |
83. |
DAWSON SP et al. (1960) Galactosemia. A genetic study of four generations by enzyme assay. |
84. |
WALKER FA et al. (1962) Galactosemia: a study of twenty-seven kindreds in North America. |
85. |
BEUTLER E et al. (1965) A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY. |
86. |
Segal S et al. (2006) Pathways of galactose metabolism by galactosemics: evidence for galactose conversion to hepatic UDPglucose. |
87. |
None (2006) Classical galactosaemia revisited. |
88. |
Feillet F et al. (2008) Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency. |
89. |
Carney AE et al. (2009) Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase. |
90. |
Tang M et al. (2014) Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model. |
91. |
None (1979) Genetic control of morphogenetic and biochemical differentiation: lethal albino deletions in the mouse. |
92. |
Weinberg AG et al. (1976) The occurrence of hepatoma in the chronic form of hereditary tyrosinemia. |
93. |
Fisch RO et al. (1978) Homotransplantation of the liver in a patient with hepatoma and hereditary tyrosinemia. |
94. |
Lindblad B et al. (1977) On the enzymic defects in hereditary tyrosinemia. |
95. |
Holme E et al. (1992) Neonatal screen for hereditary tyrosinaemia type I. |
96. |
Lindstedt S et al. (1992) Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. |
97. |
Phaneuf D et al. (1992) Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. |
98. |
Sokal EM et al. (1992) Liver transplantation for hereditary tyrosinemia--early transplantation following the patient's stabilization. |
99. |
Kvittingen EA et al. (1992) Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein. |
100. |
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. |
101. |
Mitchell G et al. (1990) Neurologic crises in hereditary tyrosinemia. |
102. |
De Braekeleer M et al. (1990) Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean. |
103. |
Tanguay RM et al. (1990) Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I). |
104. |
Russo P et al. (1990) Visceral pathology of hereditary tyrosinemia type I. |
105. |
Laberge C et al. (1990) Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I. |
106. |
Paradis K et al. (1990) Liver transplantation for hereditary tyrosinemia: the Quebec experience. |
107. |
Dehner LP et al. (1989) Hereditary tyrosinemia type I (chronic form): pathologic findings in the liver. |
108. |
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. |
109. |
Tuchman M et al. (1985) Persistent succinylacetone excretion after liver transplantation in a patient with hereditary tyrosinaemia type I. |
110. |
Holme E et al. (1985) Possibilities for treatment and for early prenatal diagnosis of hereditary tyrosinaemia. |
111. |
Pettit BR et al. (1985) Early prenatal diagnosis of hereditary tyrosinaemia. |
112. |
Kvittingen EA et al. (1986) Liver transplantation in a 23-year-old tyrosinaemia patient: effects on the renal tubular dysfunction. |
113. |
Kvittingen EA et al. (1986) Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material. |
114. |
Kvittingen EA et al. (1985) Deficiency of fumarylacetoacetase without hereditary tyrosinemia. |
115. |
Whelan DT et al. (1974) Microassay of tyrosine-amino transferase and p-hydroxyphenylpyruvic acid oxidase in mammalian liver and patients with hereditary tyrosinemia. |
116. |
Gaull GE et al. (1968) Significance of hypermethionaemia in acute tyrosinosis. |
117. |
None (1967) The enzymatic deficiency in tyrosinemia. |
118. |
Gaull GE et al. (1970) Biochemical observations on so-called hereditary tyrosinemia. |
119. |
Kang ES et al. (1970) Hereditary tyrosinemia and abnormal pyrrole metabolism. |
120. |
None (1969) Hereditary tyrosinemia in a French Canadian isolate. |
121. |
Halvorsen S et al. (1966) Tyrosinosis. A study of 6 cases. |
122. |
Scriver CR et al. (1967) Hereditary tyrosinemia and tyrosyluria in a French Canadian geographic isolate. |
123. |
Hostetter MK et al. (1983) Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia. |
124. |
Gartner JC et al. (1984) Orthotopic liver transplantation in children: two-year experience with 47 patients. |
125. |
Kvittingen EA et al. (1983) Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia. |
126. |
Gagné R et al. (1982) Prenatal diagnosis of hereditary tyrosinaemia: measurement of succinylacetone in amniotic fluid. |
127. |
Kvittingen EA et al. (1981) Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia. |
129. |
Grompe M et al. (1995) Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I. |
130. |
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. |
131. |
Laine J et al. (1995) The nephropathy of type I tyrosinemia after liver transplantation. |
132. |
St-Louis M et al. (1995) Two novel mutations involved in hereditary tyrosinemia type I. |
133. |
Demers SI et al. (1994) Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis. |
134. |
Kvittingen EA et al. (1994) Self-induced correction of the genetic defect in tyrosinemia type I. |
135. |
Rootwelt H et al. (1994) Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I. |
136. |
Grompe M et al. (1994) A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. |
137. |
St-Louis M et al. (1994) Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I. |
138. |
Grompe M et al. (1993) Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice. |
139. |
Grompe M et al. (1993) Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. |
140. |
Labelle Y et al. (1993) Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. |
141. |
Kvittingen EA et al. (1993) Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect. |
142. |
None (1996) Round two for liver gene therapy. |
143. |
Overturf K et al. (1996) Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I. |
144. |
Timmers C et al. (1996) Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I. |
145. |
St-Louis M et al. (1996) Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation. |
146. |
Rootwelt H et al. (1996) Fumarylacetoacetase mutations in tyrosinaemia type I. |
147. |
Overturf K et al. (1997) Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I. |
148. |
St-Louis M et al. (1997) Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview. |
150. |
Kubo S et al. (1998) Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors. |
151. |
Poudrier J et al. (1998) Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes. |
152. |
Holme E et al. (1998) Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione). |
153. |
Prieto-Alamo MJ et al. (1998) Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I. |
154. |
Kim SZ et al. (2000) Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. |
155. |
Aponte JL et al. (2001) Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1. |
156. |
Jorquera R et al. (2001) Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability. |
158. |
None (1963) TYROSINOSIS. |
159. |
FRITZELL S et al. (1964) FAMILIAL CIRRHOSIS OF THE LIVER, RENAL TUBULAR DEFECTS WITH RICKETS AND IMPAIRED TYROSINE METABOLISM. |
160. |
HALVORSEN S et al. (1964) STUDIES ON TYROSINOSIS: 1, EFFECT OF LOW-TYROSINE AND LOW-PHENYLALANINE DIET. |
161. |
GENTZ J et al. (1965) TYROSINEMIA. |
162. |
PERRY TL et al. (1965) HYPERMETHIONINEMIA: A METABOLIC DISORDER ASSOCIATED WITH CIRRHOSIS, ISLET CELL HYPERPLASIA, AND RENAL TUBULAR DEGENERATION. |
163. |
Bliksrud YT et al. (2005) Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect. |
164. |
Wuestefeld T et al. (2013) A Direct in vivo RNAi screen identifies MKK4 as a key regulator of liver regeneration. |
165. |
Orphanet article Orphanet ID 882 |
166. |
OMIM.ORG article Omim 276700 |