Die Glycogenspeicherkrankheit 1a (von Gierke) ist ein autosomal rezessiver Glucose-6-Phosphatase-Mangel, der sich sowohl in der Niere als auch in der Leber manifestiert. Die Manifestation in der Niere ist häufig eine Glomerulosklerose aber auch ein renotubuläres Fanconi-Syndrom wird beobachtet.
Proximaler Tubulusschaden | |
Die renale Manifestation der von Gierke-Erkrankung besteht in einem renotubulären Fanconi-Syndrom und einer Glomerulosklerose. |
Glycogenspeicherkrankheit 1 | ||||
Glycogenspeicherkrankheit 1A | ||||
G6PC | ||||
Glycogenspeicherkrankheit 1B | ||||
Glycogenspeicherkrankheit 1C | ||||
1. |
Hussain SP et al. (2000) Increased p53 mutation load in nontumorous human liver of wilson disease and hemochromatosis: oxyradical overload diseases. |
2. |
None (1979) Abstracts of meeting presentations. |
3. |
Tedesco TA et al. (1975) The genetic defect in galactosemia. |
4. |
Kaufman F et al. (1979) Ovarian failure in galactosaemia. |
5. |
Litchfield WJ et al. (1978) Effect of galactose on free radical reactions of polymorphonuclear leukocytes. |
6. |
Mohandas T et al. (1978) Assignment of GALT to chromosome 9 and regional localization of GALT, AK1, AK3, and ACONS on chromosome 9. |
7. |
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. |
8. |
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. |
9. |
Mohandas T et al. (1979) Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations. |
10. |
Levy HL et al. (1977) Sepsis due to Escherichia coli in neonates with galactosemia. |
11. |
Ibarra B et al. (1979) Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family. |
12. |
Tedesco TA et al. (1979) Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency. |
13. |
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. |
14. |
Wharton CH et al. (1978) Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote. |
15. |
Bruns GA et al. (1978) Expression of ACONS and GALT in man-rodent somatic cell hybrids. |
16. |
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. |
17. |
Sun NC et al. (1977) Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase. |
18. |
Scherz R et al. (1976) A new genetic variant of galactose-1-phosphate uridyl transferase. |
19. |
Hammersen G et al. (1975) Rennes-like variant of galactosemia: clinical and biochemical studies. |
20. |
Gitzelmann R et al. (1992) Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii. |
22. |
Waggoner DD et al. (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases. |
23. |
Reichardt JK et al. (1991) Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. |
24. |
Reichardt JK et al. (1991) Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. |
25. |
Flach JE et al. (1990) Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase. |
26. |
Brivet M et al. (1989) Lens hexitols and cataract formation during lactation in a woman heterozygote for galactosaemia. |
27. |
Brivet M et al. (1989) Effect of lactation in a mother with galactosemia. |
28. |
Reichardt JK et al. (1988) Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase. |
29. |
Harley JD et al. (1974) Maternal enzymes of galactose metabolism and the "inexplicable" infantile cataract. |
30. |
Tedesco TA et al. (1974) Assignment of the human gene for hexose-1-phosphate uridylyltransferase to chromosome 3. |
31. |
Sun NC et al. (1974) Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase. |
32. |
Hill HZ et al. (1973) Detection of inborn errors of metabolism: galactosemia. |
33. |
Bergren WG et al. (1973) A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant. |
34. |
Shih VE et al. (1971) Galactosemia screening of newborns in Massachusetts. |
35. |
Tedesco TA et al. (1971) Galactosemia: evidence for a structural gene mutation. |
36. |
Kelly S et al. (1972) A Duarte variant with clinical signs. |
37. |
Haschemian G et al. (1972) [A family with galactosemia and "Duarte variant"]. |
38. |
Nadler HL et al. (1970) Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity. |
39. |
None (1967) Clinical variants of galactosemia. |
40. |
Gitzelmann R et al. (1967) Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme. |
41. |
Sparkes RS et al. (1968) Galactosemia in a 24-year-old man; detection by enzyme studies. |
42. |
Cuatrecasas P et al. (1966) Galactose conversion to D-xylulose: an alternate route of galactose metabolism. |
43. |
Vaccaro AM et al. (1984) Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families. |
44. |
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. |
45. |
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. |
46. |
Lang A et al. (1980) A new variant of galactosemia: galactose-1-phosphate uridylytransferase sensitive to product inhibition by glucose 1-phosphate. |
47. |
Sparkes RS et al. (1980) Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh. |
48. |
Mulcahy MT et al. (1980) Where is the gene for GALT? |
49. |
Sparkes RS et al. (1980) Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen leads to 9p22. |
50. |
Eydoux P et al. (1981) Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination. |
51. |
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. |
52. |
Kelley RI et al. (1983) Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing. |
53. |
Xu YK et al. (1983) Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese. |
54. |
Andersen MW et al. (1984) Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants. |
55. |
Andersen MW et al. (1983) Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells. |
56. |
Robinson AC et al. (1984) Hypergonadotrophic hypogonadism in classical galactosaemia: evidence for defective oogenesis. Case report. |
57. |
Garcia-Cruz D et al. (1982) Tetrasomy 9p: clinical aspects and enzymatic gene dosage expression. |
58. |
Urbanowski JC et al. (1982) Nonenzymatically galactosylated serum albumin in a galactosemic infant. |
59. |
Ashino J et al. (1995) Molecular characterization of galactosemia (type 1) mutations in Japanese. |
60. |
Lin HC et al. (1995) Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations. |
61. |
Elsas LJ et al. (1995) Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. |
62. |
Elsas LJ et al. (1994) A common mutation associated with the Duarte galactosemia allele. |
63. |
Schweitzer S et al. (1993) Long-term outcome in 134 patients with galactosaemia. |
64. |
Reichardt JK et al. (1993) Molecular characterization of the H319Q galactosemia mutation. |
65. |
Lai K et al. (1996) A prevalent mutation for galactosemia among black Americans. |
66. |
Elsevier JP et al. (1996) Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase. |
67. |
Ninfali P et al. (1996) Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle. |
68. |
Podskarbi T et al. (1996) Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase. |
69. |
Elsevier JP et al. (1996) The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative. |
70. |
Levy HL et al. (1996) Vitreous hemorrhage as an ophthalmic complication of galactosemia. |
71. |
Langley SD et al. (1997) Molecular basis for Duarte and Los Angeles variant galactosemia. |
72. |
Greber-Platzer S et al. (1997) Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. |
74. |
Tyfield L et al. (1999) Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. |
75. |
Kozák L et al. (1999) Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles. |
76. |
Murphy M et al. (1999) Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers. |
77. |
de Jongh S et al. (1999) Spontaneous pregnancy in a patient with classical galactosaemia. |
78. |
Ruiz M et al. (1999) Galactosaemia presenting as congenital pseudoafibrinogenaemia. |
79. |
Elsas LJ et al. () The molecular biology of galactosemia. |
80. |
Elsas LJ et al. (2001) Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia. |
81. |
Trbusek M et al. (2001) Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency. |
82. |
Suzuki M et al. (2001) Large-scale molecular screening for galactosemia alleles in a pan-ethnic population. |
83. |
Webb AL et al. (2003) Verbal dyspraxia and galactosemia. |
84. |
DAWSON SP et al. (1960) Galactosemia. A genetic study of four generations by enzyme assay. |
85. |
WALKER FA et al. (1962) Galactosemia: a study of twenty-seven kindreds in North America. |
86. |
BEUTLER E et al. (1965) A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY. |
87. |
Segal S et al. (2006) Pathways of galactose metabolism by galactosemics: evidence for galactose conversion to hepatic UDPglucose. |
88. |
None (2006) Classical galactosaemia revisited. |
89. |
Feillet F et al. (2008) Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency. |
90. |
Carney AE et al. (2009) Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase. |
91. |
Tang M et al. (2014) Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model. |
92. |
None (1979) Genetic control of morphogenetic and biochemical differentiation: lethal albino deletions in the mouse. |
93. |
Weinberg AG et al. (1976) The occurrence of hepatoma in the chronic form of hereditary tyrosinemia. |
94. |
Fisch RO et al. (1978) Homotransplantation of the liver in a patient with hepatoma and hereditary tyrosinemia. |
95. |
Lindblad B et al. (1977) On the enzymic defects in hereditary tyrosinemia. |
96. |
Holme E et al. (1992) Neonatal screen for hereditary tyrosinaemia type I. |
97. |
Lindstedt S et al. (1992) Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. |
98. |
Phaneuf D et al. (1992) Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. |
99. |
Sokal EM et al. (1992) Liver transplantation for hereditary tyrosinemia--early transplantation following the patient's stabilization. |
100. |
Kvittingen EA et al. (1992) Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein. |
101. |
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. |
102. |
Mitchell G et al. (1990) Neurologic crises in hereditary tyrosinemia. |
103. |
De Braekeleer M et al. (1990) Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean. |
104. |
Tanguay RM et al. (1990) Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I). |
105. |
Russo P et al. (1990) Visceral pathology of hereditary tyrosinemia type I. |
106. |
Laberge C et al. (1990) Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I. |
107. |
Paradis K et al. (1990) Liver transplantation for hereditary tyrosinemia: the Quebec experience. |
108. |
Dehner LP et al. (1989) Hereditary tyrosinemia type I (chronic form): pathologic findings in the liver. |
109. |
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. |
110. |
Tuchman M et al. (1985) Persistent succinylacetone excretion after liver transplantation in a patient with hereditary tyrosinaemia type I. |
111. |
Holme E et al. (1985) Possibilities for treatment and for early prenatal diagnosis of hereditary tyrosinaemia. |
112. |
Pettit BR et al. (1985) Early prenatal diagnosis of hereditary tyrosinaemia. |
113. |
Kvittingen EA et al. (1986) Liver transplantation in a 23-year-old tyrosinaemia patient: effects on the renal tubular dysfunction. |
114. |
Kvittingen EA et al. (1986) Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material. |
115. |
Kvittingen EA et al. (1985) Deficiency of fumarylacetoacetase without hereditary tyrosinemia. |
116. |
Whelan DT et al. (1974) Microassay of tyrosine-amino transferase and p-hydroxyphenylpyruvic acid oxidase in mammalian liver and patients with hereditary tyrosinemia. |
117. |
Gaull GE et al. (1968) Significance of hypermethionaemia in acute tyrosinosis. |
118. |
None (1967) The enzymatic deficiency in tyrosinemia. |
119. |
Gaull GE et al. (1970) Biochemical observations on so-called hereditary tyrosinemia. |
120. |
Kang ES et al. (1970) Hereditary tyrosinemia and abnormal pyrrole metabolism. |
121. |
None (1969) Hereditary tyrosinemia in a French Canadian isolate. |
122. |
Halvorsen S et al. (1966) Tyrosinosis. A study of 6 cases. |
123. |
Scriver CR et al. (1967) Hereditary tyrosinemia and tyrosyluria in a French Canadian geographic isolate. |
124. |
Hostetter MK et al. (1983) Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia. |
125. |
Gartner JC et al. (1984) Orthotopic liver transplantation in children: two-year experience with 47 patients. |
126. |
Kvittingen EA et al. (1983) Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia. |
127. |
Gagné R et al. (1982) Prenatal diagnosis of hereditary tyrosinaemia: measurement of succinylacetone in amniotic fluid. |
128. |
Kvittingen EA et al. (1981) Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia. |
130. |
Grompe M et al. (1995) Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I. |
131. |
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. |
132. |
Laine J et al. (1995) The nephropathy of type I tyrosinemia after liver transplantation. |
133. |
St-Louis M et al. (1995) Two novel mutations involved in hereditary tyrosinemia type I. |
134. |
Demers SI et al. (1994) Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis. |
135. |
Kvittingen EA et al. (1994) Self-induced correction of the genetic defect in tyrosinemia type I. |
136. |
Rootwelt H et al. (1994) Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I. |
137. |
Grompe M et al. (1994) A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. |
138. |
St-Louis M et al. (1994) Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I. |
139. |
Grompe M et al. (1993) Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice. |
140. |
Grompe M et al. (1993) Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. |
141. |
Labelle Y et al. (1993) Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. |
142. |
Kvittingen EA et al. (1993) Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect. |
143. |
None (1996) Round two for liver gene therapy. |
144. |
Overturf K et al. (1996) Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I. |
145. |
Timmers C et al. (1996) Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I. |
146. |
St-Louis M et al. (1996) Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation. |
147. |
Rootwelt H et al. (1996) Fumarylacetoacetase mutations in tyrosinaemia type I. |
148. |
Overturf K et al. (1997) Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I. |
149. |
St-Louis M et al. (1997) Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview. |
151. |
Kubo S et al. (1998) Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors. |
152. |
Poudrier J et al. (1998) Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes. |
153. |
Holme E et al. (1998) Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione). |
154. |
Prieto-Alamo MJ et al. (1998) Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I. |
155. |
Kim SZ et al. (2000) Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. |
156. |
Aponte JL et al. (2001) Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1. |
157. |
Jorquera R et al. (2001) Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability. |
159. |
None (1963) TYROSINOSIS. |
160. |
FRITZELL S et al. (1964) FAMILIAL CIRRHOSIS OF THE LIVER, RENAL TUBULAR DEFECTS WITH RICKETS AND IMPAIRED TYROSINE METABOLISM. |
161. |
HALVORSEN S et al. (1964) STUDIES ON TYROSINOSIS: 1, EFFECT OF LOW-TYROSINE AND LOW-PHENYLALANINE DIET. |
162. |
GENTZ J et al. (1965) TYROSINEMIA. |
163. |
PERRY TL et al. (1965) HYPERMETHIONINEMIA: A METABOLIC DISORDER ASSOCIATED WITH CIRRHOSIS, ISLET CELL HYPERPLASIA, AND RENAL TUBULAR DEGENERATION. |
164. |
Bliksrud YT et al. (2005) Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect. |
165. |
Wuestefeld T et al. (2013) A Direct in vivo RNAi screen identifies MKK4 as a key regulator of liver regeneration. |
166. |
Loudianos G et al. (1999) Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. |
167. |
Okada T et al. (2000) Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. |
168. |
Forbes JR et al. (2000) Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. |
169. |
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. |
170. |
Takeshita Y et al. (2002) Two families with Wilson disease in which siblings showed different phenotypes. |
171. |
Margarit E et al. (2005) Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene. |
172. |
Gupta A et al. (2005) Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. |
174. |
Park S et al. (2007) Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. |
175. |
Park HD et al. (2009) Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population. |
176. |
Wang LH et al. (2011) Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation. |
177. |
Thomas GR et al. (1995) The Wilson disease gene: spectrum of mutations and their consequences. |
178. |
Thomas GR et al. (1995) Wilson disease in Iceland: a clinical and genetic study. |
179. |
Thomas GR et al. (1995) Haplotypes and mutations in Wilson disease. |
180. |
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. |
181. |
Bull PC et al. (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. |
182. |
Tanzi RE et al. (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. |
183. |
Figus A et al. (1995) Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. |
184. |
Terada K et al. (1998) Restoration of holoceruloplasmin synthesis in LEC rat after infusion of recombinant adenovirus bearing WND cDNA. |
185. |
Kim EK et al. (1998) Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. |
186. |
Loudianos G et al. (1998) Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. |
187. |
Duc HH et al. () His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype. |
188. |
Reed V et al. (1995) Mapping of the mouse homologue of the Wilson disease gene to mouse chromosome 8. |
189. |
Houwen RH et al. (1995) H714Q mutation in Wilson disease is associated with late, neurological presentation. |
190. |
Dijkstra M et al. (1995) Adenosine triphosphate-dependent copper transport in isolated rat liver plasma membranes. |
192. |
Yang XL et al. (1997) Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments. |
193. |
Shah AB et al. (1997) Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. |
194. |
Payne AS et al. (1998) Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation. |
195. |
Kusuda Y et al. (2000) Novel mutations of the ATP7B gene in Japanese patients with Wilson disease. |
196. |
None (2000) Cellular copper transport and metabolism. |
197. |
Wilson DC et al. (2000) Severe hepatic Wilson's disease in preschool-aged children. |
198. |
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. |
199. |
Loudianos G et al. (2000) Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations. |
200. |
Wu ZY et al. (2001) Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease. |
201. |
Firneisz G et al. (2002) Common mutations of ATP7B in Wilson disease patients from Hungary. |
202. |
Loudianos G et al. (2002) Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. |
203. |
None () Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease. |
204. |
Cullen LM et al. (2003) Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease. |
205. |
Gu YH et al. (2003) Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease. |
206. |
Panagiotakaki E et al. (2004) Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B). |
207. |
Pendlebury ST et al. (2004) Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation. |
208. |
Dedoussis GV et al. (2005) Wilson disease: high prevalence in a mountainous area of Crete. |
209. |
Todorov T et al. (2005) Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population. |
210. |
Lim CM et al. (2006) Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A. |
211. |
Barada K et al. (2007) Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease. |
212. |
Luoma LM et al. (2010) Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B. |
213. |
Gourdon P et al. (2011) Crystal structure of a copper-transporting PIB-type ATPase. |
214. |
Lei KJ et al. (1993) Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. |
215. |
Chevalier-Porst F et al. (1996) Mutation analysis in 24 French patients with glycogen storage disease type 1a. |
216. |
Parvari R et al. (1997) Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. |
217. |
Stroppiano M et al. (1999) Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. |
219. |
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. |
220. |
Ekstein J et al. (2004) Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. |
221. |
Chowrimootoo GF et al. (1998) Caeruloplasmin isoforms in Wilson's disease in neonates. |
222. |
Ferlan-Marolt V et al. (1999) Fulminant Wilsonian hepatitis unmasked by disease progression: report of a case and review of the literature. |
223. |
None (1999) Penicillamine: the treatment of first choice for patients with Wilson's disease. |
224. |
None (1999) Penicillamine should not be used as initial therapy in Wilson's disease. |
225. |
None (1999) Penicillamine as a controversial treatment for Wilson's disease. |
226. |
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. |
227. |
Gow PJ et al. (2000) Diagnosis of Wilson's disease: an experience over three decades. |
228. |
Gu M et al. (2000) Oxidative-phosphorylation defects in liver of patients with Wilson's disease. |
229. |
Firneisz G et al. (2001) Postcremation diagnosis from an electric shaver. |
230. |
Fitzgerald MA et al. (1975) Wilson's disease (hepatolenticular degeneration) of late adult onset: report of case. |
231. |
None (2001) Postcremation diagnosis. |
232. |
None (2001) Postcremation diagnosis. |
233. |
Olivarez L et al. (2001) Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach. |
234. |
Hedera P et al. (2002) White matter changes in Wilson disease. |
235. |
Hlubocká Z et al. (2002) Cardiac involvement in Wilson disease. |
236. |
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. |
237. |
Wu ZY et al. (2003) Molecular diagnosis and prophylactic therapy for presymptomatic Chinese patients with Wilson disease. |
238. |
None (1956) Penicillamine, a new oral therapy for Wilson's disease. |
239. |
Cossu P et al. (1992) Prenatal diagnosis of Wilson's disease by analysis of DNA polymorphism. |
240. |
None (1960) A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration). |
241. |
LITIN RB et al. (1959) Hypercalciuria in hepatolenticular degeneration (Wilson's disease). |
242. |
Scheffer H et al. (1992) Identification of crossovers in Wilson disease families as reference points for a genetic localization of the gene. |
243. |
Jung KH et al. (2005) Wilson disease with an initial manifestation of polyneuropathy. |
245. |
None (2006) Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. |
246. |
Lang PA et al. (2007) Liver cell death and anemia in Wilson disease involve acid sphingomyelinase and ceramide. |
247. |
de Bie P et al. (2007) Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. |
248. |
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. |
249. |
Alvarez HM et al. (2010) Tetrathiomolybdate inhibits copper trafficking proteins through metal cluster formation. |
250. |
Li Y et al. (1991) Spontaneous hepatic copper accumulation in Long-Evans Cinnamon rats with hereditary hepatitis. A model of Wilson's disease. |
251. |
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. |
252. |
Bonné-Tamir B et al. (1990) Wilson's disease in Israel: a genetic and epidemiological study. |
253. |
Danks DM et al. (1990) Wilson's disease in adults with cirrhosis but no neurological abnormalities. |
254. |
Figus A et al. (1989) Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis. |
255. |
Azizi E et al. (1989) Hypercalciuria and nephrolithiasis as a presenting sign in Wilson disease. |
256. |
None (1988) Wilson's disease: yesterday, today, and tomorrow. |
257. |
None (1988) Remembering Kinnier Wilson. |
258. |
None (1988) Memories of my father [Kinnier Wilson]. |
259. |
Yuzbasiyan-Gurkan V et al. (1988) Linkage of the Wilson disease gene to chromosome 13 in North-American pedigrees. |
260. |
Farrer LA et al. (1988) Predicting genotypes at loci for autosomal recessive disorders using linked genetic markers: application to Wilson's disease. |
261. |
Bowcock AM et al. (1988) Eight closely linked loci place the Wilson disease locus within 13q14-q21. |
262. |
Polson RJ et al. (1987) Reversal of severe neurological manifestations of Wilson's disease following orthotopic liver transplantation. |
263. |
Brewer GJ et al. (1987) Treatment of Wilson's disease. |
264. |
Menerey KA et al. (1988) The arthropathy of Wilson's disease: clinical and pathologic features. |
265. |
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. |
266. |
None (1978) Diagnosis of treatable Wilson's disease. |
267. |
Lingam S et al. (1987) Neurological abnormalities in Wilson's disease are reversible. |
268. |
Czaja MJ et al. (1987) Molecular studies of ceruloplasmin deficiency in Wilson's disease. |
269. |
Starosta-Rubinstein S et al. (1987) Clinical assessment of 31 patients with Wilson's disease. Correlations with structural changes on magnetic resonance imaging. |
270. |
None (1987) Cardiac Wilson's disease. |
271. |
Frydman M et al. (1985) Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus. |
272. |
Sokol RJ et al. (1985) Orthotopic liver transplantation for acute fulminant Wilson disease. |
273. |
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. |
274. |
Ross ME et al. (1985) Late-onset Wilson's disease with neurological involvement in the absence of Kayser-Fleischer rings. |
275. |
Levi AJ et al. (1967) Presymptomatic Wilson's disease. |
276. |
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. |
277. |
Shokeir MH et al. (1969) Cytochrome oxidase deficiency in Wilson's disease: a suggested ceruloplasmin function. |
278. |
Wiebers DO et al. (1979) Renal stones in Wilson's disease. |
279. |
None (1971) Investigations on the nature of ceruloplasmin deficiency in the newborn. |
280. |
Sternlieb I et al. (1972) Chronic hepatitis as a first manifestation of Wilson's disease. |
281. |
Cox DW et al. (1972) A genetic study of Wilson's disease: evidence for heterogeneity. |
282. |
Slovis TL et al. (1971) The varied manifestations of Wilson's disease. |
283. |
Goldstein NP et al. (1971) Wilson's disease (hepatolenticular degeneration). Treatment with penicillamine and changes in hepatic trapping of radioactive copper. |
284. |
Frommer D et al. (1977) Kayser-Fleischer-like rings in patients without Wilson's disease. |
285. |
Whelton MJ et al. (1968) Azure lunules in Argyria. Corneal changes resembling Kayser-Fleischer Rings. |
286. |
Holtzman NA et al. (1967) Ceruloplasmin in Wilson's disease. |
287. |
Hoogenraad TU et al. (1983) 3 years of continuous oral zinc therapy in 4 patients with Wilson's disease. |
288. |
None (1983) Evaluation of segregation ratio in Wilson's disease. |
289. |
Carpenter TO et al. (1983) Hypoparathyroidism in Wilson's disease. |
290. |
Owen CA et al. (1982) Inherited copper toxicosis in Bedlington terriers: Wilson's disease (hepatolenticular degeneration). |
291. |
Factor SM et al. (1982) The cardiomyopathy of Wilson's disease. Myocardial alterations in nine cases. |
292. |
Członkowska A et al. (1981) Late onset of Wilson's disease. Report of a family. |
293. |
Dobyns WB et al. (1979) Clinical spectrum of Wilson's disease (hepatolenticular degeneration). |
294. |
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. |
295. |
Devesa R et al. (1995) Wilson's disease treated with trientine during pregnancy. |
296. |
None (1994) Dangers of interrupting decoppering treatment in Wilson's disease. |
297. |
Wu J et al. (1994) The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene. |
298. |
Brewer GJ et al. (1994) Treatment of Wilson's disease with zinc. XIII: Therapy with zinc in presymptomatic patients from the time of diagnosis. |
299. |
Thomas GR et al. (1994) Haplotype studies in Wilson disease. |
300. |
Lang CJ et al. (1993) Fatal deterioration of Wilson's disease after institution of oral zinc therapy. |
301. |
Hoppe B et al. (1993) Hypercalciuria and nephrocalcinosis, a feature of Wilson's disease. |
302. |
Petrukhin K et al. (1993) Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. |
303. |
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. |
304. |
Passwell J et al. (1977) Heterogeneity of Wilson's disease in Israel. |
305. |
Yuzbasiyan-Gurkan V et al. (1993) Linkage studies of the esterase D and retinoblastoma genes to canine copper toxicosis: a model for Wilson disease. |
306. |
van Wassenaer-van Hall HN et al. () Cranial MR in Wilson disease: abnormal white matter in extrapyramidal and pyramidal tracts. |
307. |
Guarino M et al. (1995) No neurological improvement after liver transplantation for Wilson's disease. |
308. |
Theophilos MB et al. (1996) The toxic milk mouse is a murine model of Wilson disease. |
309. |
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. |
310. |
Huang L et al. (1997) A novel gene involved in zinc transport is deficient in the lethal milk mouse. |
311. |
Brewer GJ et al. (1998) Treatment of Wilson's disease with zinc: XV long-term follow-up studies. |
312. |
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. |
313. |
Burchell A et al. (1990) Diagnosis of a novel glycogen storage disease: type 1aSP. |
314. |
Gadoth N et al. (1980) Transient external ophthalmoplegia in Wilson's disease. |
315. |
Lei KJ et al. (1995) Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. |
316. |
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. |
317. |
Brody LC et al. (1995) Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17. |
318. |
Nakai K et al. (1994) Construction of a novel database containing aberrant splicing mutations of mammalian genes. |
319. |
Lei KJ et al. (1994) Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. |
320. |
Shelly LL et al. (1993) Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A. |
321. |
None (1996) Treatment of Wilson's disease: the historical background. |
322. |
Lee WJ et al. (1996) Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family. |
323. |
Weston BW et al. (2000) Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. |
324. |
Burchell A et al. (1987) Diagnosis of type 1a and type 1c glycogen storage diseases in adults. |
325. |
Talente GM et al. (1994) Glycogen storage disease in adults. |
326. |
Lee PJ et al. (1996) Uncooked cornstarch--efficacy in type I glycogenosis. |
327. |
Yang Chou J et al. (1999) Molecular Genetics of Type 1 Glycogen Storage Diseases. |
328. |
Ryan IP et al. (1994) Three consecutive pregnancies in a patient with glycogen storage disease type IA (von Gierke's disease). |
329. |
None (1993) The long-term outcome of patients with glycogen storage disease type Ia. |
330. |
None (1993) Renal complications in glycogen storage disease type I. |
331. |
Selby R et al. (1993) Liver transplantation for type I and type IV glycogen storage disease. |
332. |
None (1993) Glycogen storage disease I and hepatocellular tumours. |
333. |
Restaino I et al. (1993) Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease. |
334. |
Obara K et al. (1993) Renal histology in two adult patients with type I glycogen storage disease. |
335. |
Lei KJ et al. (1996) Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse. |
336. |
Nuoffer JM et al. (1997) Treatment with low-dose diazoxide in two growth-retarded prepubertal girls with glycogen storage disease type Ia resulted in catch-up growth. |
337. |
Marcolongo P et al. (1998) Liver microsomal transport of glucose-6-phosphate, glucose, and phosphate in type 1 glycogen storage disease. |
338. |
Faivre L et al. (1999) Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia. |
339. |
Seydewitz HH et al. (2000) Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations. |
340. |
Trioche P et al. (2000) Apolipoprotein E polymorphism and serum concentrations in patients with glycogen storage disease type Ia. |
341. |
Weinstein DA et al. (2001) Decreased urinary citrate excretion in type 1a glycogen storage disease. |
342. |
Wierzbicki AS et al. (2001) Very low-density lipoprotein apolipoprotein B-100 turnover in glycogen storage disease type Ia (von Gierke disease). |
343. |
Sun MS et al. (2002) Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice. |
344. |
CORI GT et al. (1952) Glucose-6-phosphatase of the liver in glycogen storage disease. |
345. |
Lam TK et al. (2005) Regulation of blood glucose by hypothalamic pyruvate metabolism. |
346. |
None () //// |
347. |
Kishnani PS et al. (2009) Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. |
348. |
Wang DQ et al. (2012) Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib. |
349. |
Senior B et al. (1968) Functional differentiation of glycogenoses of the liver with respect to the use of glycerol. |
350. |
Ito E et al. (1987) Type 1a glycogen storage disease with hepatoblastoma in siblings. |
351. |
Fraumeni JF et al. (1969) Hepatoblastoma in infant sisters. |
352. |
Stamm WE et al. (1975) Partial deficiency of hepatic glucose-6-phosphatase in an adult patient. |
353. |
Miller JH et al. (1978) Scintigraphic abnormalities in glycogen storage disease. |
354. |
Emmett M et al. (1978) Renal tranplantation in type 1 glycogenosis. Failure to improve glucose metabolism. |
355. |
Greene HL et al. (1976) Continuous nocturnal intragastric feeding for management of type 1 glycogen-storage disease. |
356. |
Kikuchi M et al. (1991) Chronic pancreatitis in a child with glycogen storage disease type 1. |
357. |
Furukawa N et al. (1990) Type I glycogen storage disease with vasoconstrictive pulmonary hypertension. |
358. |
Chen YT et al. (1990) Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy. |
359. |
Limmer J et al. () Hepatocellular carcinoma in type I glycogen storage disease. |
360. |
Cohen JL et al. (1985) Hyperuricemia in glycogen storage disease type I. Contributions by hypoglycemia and hyperglucagonemia to increased urate production. |
361. |
Chen YT et al. (1988) Renal disease in type I glycogen storage disease. |
362. |
Senior B et al. (1968) Studies of liver glycogenoses, with particular reference to the metabolism of intravenously administered glycerol. |
363. |
Zangeneh F et al. (1969) Hepatorenal glycogenosis (type I glycogenosis) and carcinoma of the liver. |
364. |
None (1965) The interrelationship of glycogen storage disease and gout. |
365. |
Fine RN et al. (1968) Retinal changes in glycogen storage disease type I. |
366. |
Rennert OM et al. (1968) Diazoxide in von Gierke's disease. |
367. |
Spencer-Peet J et al. (1971) Hepatic glycogen storage disease. Clinical and laboratory findings in 23 cases. |
368. |
Malatack JJ et al. (1983) Liver transplantation for type I glycogen storage disease. |
369. |
Chen YT et al. (1984) Cornstarch therapy in type I glycogen-storage disease. |
370. |
None (1980) Type I glycogen storage disease with focal nodular hyperplasia of the liver and vasoconstrictive pulmonary hypertension. |
371. |
Michels VV et al. (1980) Hemorrhagic pancreatitis in a patient with glycogen storage disease type I. |
372. |
Lei KJ et al. (1995) Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c. |
373. |
OMIM.ORG article Omim 232200 |
374. |
Orphanet article Orphanet ID 79201 |