Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Glycogenspeicherkrankheit 1A
G6PC

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) Abstracts of meeting presentations.

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3.

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4.

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5.

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6.

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7.

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9.

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10.

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11.

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12.

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14.

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15.

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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.

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17.

Sun NC et al. (1977) Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase.

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18.

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25.

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30.

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32.

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35.

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36.

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37.

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38.

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39.

None (1967) Clinical variants of galactosemia.

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40.

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41.

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42.

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43.

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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.

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45.

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47.

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48.

Mulcahy MT et al. (1980) Where is the gene for GALT?

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49.

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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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.

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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.

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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.

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53.

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54.

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61.

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65.

Lai K et al. (1996) A prevalent mutation for galactosemia among black Americans.

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66.

Elsevier JP et al. (1996) Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.

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67.

Ninfali P et al. (1996) Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.

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68.

Podskarbi T et al. (1996) Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.

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69.

Elsevier JP et al. (1996) The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.

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70.

Levy HL et al. (1996) Vitreous hemorrhage as an ophthalmic complication of galactosemia.

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71.

Langley SD et al. (1997) Molecular basis for Duarte and Los Angeles variant galactosemia.

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72.

Greber-Platzer S et al. (1997) Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

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73.

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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74.

Tyfield L et al. (1999) Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

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75.

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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76.

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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77.

de Jongh S et al. (1999) Spontaneous pregnancy in a patient with classical galactosaemia.

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79.

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80.

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81.

Trbusek M et al. (2001) Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.

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82.

Suzuki M et al. (2001) Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.

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83.

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84.

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86.

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88.

None (2006) Classical galactosaemia revisited.

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89.

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90.

Carney AE et al. (2009) Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.

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91.

Tang M et al. (2014) Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.

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92.

None (1979) Genetic control of morphogenetic and biochemical differentiation: lethal albino deletions in the mouse.

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93.

Weinberg AG et al. (1976) The occurrence of hepatoma in the chronic form of hereditary tyrosinemia.

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94.

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96.

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98.

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99.

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100.

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101.

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102.

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103.

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104.

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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105.

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106.

Laberge C et al. (1990) Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I.

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107.

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108.

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110.

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111.

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112.

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113.

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114.

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118.

None (1967) The enzymatic deficiency in tyrosinemia.

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120.

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121.

None (1969) Hereditary tyrosinemia in a French Canadian isolate.

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122.

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123.

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124.

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125.

Gartner JC et al. (1984) Orthotopic liver transplantation in children: two-year experience with 47 patients.

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126.

Kvittingen EA et al. (1983) Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia.

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127.

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131.

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132.

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133.

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134.

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135.

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136.

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137.

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138.

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139.

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140.

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141.

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142.

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143.

None (1996) Round two for liver gene therapy.

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144.

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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145.

Timmers C et al. (1996) Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.

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146.

St-Louis M et al. (1996) Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation.

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147.

Rootwelt H et al. (1996) Fumarylacetoacetase mutations in tyrosinaemia type I.

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148.

Overturf K et al. (1997) Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I.

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149.

St-Louis M et al. (1997) Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.

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150.

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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151.

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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152.

Poudrier J et al. (1998) Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.

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153.

Holme E et al. (1998) Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione).

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154.

Prieto-Alamo MJ et al. (1998) Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I.

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155.

Kim SZ et al. (2000) Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.

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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.

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157.

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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158.

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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159.

None (1963) TYROSINOSIS.

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160.

FRITZELL S et al. (1964) FAMILIAL CIRRHOSIS OF THE LIVER, RENAL TUBULAR DEFECTS WITH RICKETS AND IMPAIRED TYROSINE METABOLISM.

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161.

HALVORSEN S et al. (1964) STUDIES ON TYROSINOSIS: 1, EFFECT OF LOW-TYROSINE AND LOW-PHENYLALANINE DIET.

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162.

GENTZ J et al. (1965) TYROSINEMIA.

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163.

PERRY TL et al. (1965) HYPERMETHIONINEMIA: A METABOLIC DISORDER ASSOCIATED WITH CIRRHOSIS, ISLET CELL HYPERPLASIA, AND RENAL TUBULAR DEGENERATION.

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164.

Bliksrud YT et al. (2005) Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.

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165.

Wuestefeld T et al. (2013) A Direct in vivo RNAi screen identifies MKK4 as a key regulator of liver regeneration.

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166.

Loudianos G et al. (1999) Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.

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167.

Okada T et al. (2000) Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.

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168.

Forbes JR et al. (2000) Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.

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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.

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170.

Takeshita Y et al. (2002) Two families with Wilson disease in which siblings showed different phenotypes.

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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.

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172.

Gupta A et al. (2005) Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.

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173.

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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174.

Park S et al. (2007) Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.

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175.

Park HD et al. (2009) Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population.

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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.

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177.

Thomas GR et al. (1995) The Wilson disease gene: spectrum of mutations and their consequences.

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178.

Thomas GR et al. (1995) Wilson disease in Iceland: a clinical and genetic study.

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179.

Thomas GR et al. (1995) Haplotypes and mutations in Wilson disease.

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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.

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181.

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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182.

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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183.

Figus A et al. (1995) Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.

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184.

Terada K et al. (1998) Restoration of holoceruloplasmin synthesis in LEC rat after infusion of recombinant adenovirus bearing WND cDNA.

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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.

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186.

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187.

Duc HH et al. () His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.

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188.

Reed V et al. (1995) Mapping of the mouse homologue of the Wilson disease gene to mouse chromosome 8.

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189.

Houwen RH et al. (1995) H714Q mutation in Wilson disease is associated with late, neurological presentation.

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190.

Dijkstra M et al. (1995) Adenosine triphosphate-dependent copper transport in isolated rat liver plasma membranes.

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191.

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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192.

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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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.

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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.

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196.

None (2000) Cellular copper transport and metabolism.

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197.

Wilson DC et al. (2000) Severe hepatic Wilson's disease in preschool-aged children.

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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.

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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.

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200.

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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201.

Firneisz G et al. (2002) Common mutations of ATP7B in Wilson disease patients from Hungary.

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Loudianos G et al. (2002) Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.

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None () Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.

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204.

Cullen LM et al. (2003) Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease.

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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.

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206.

Panagiotakaki E et al. (2004) Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).

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207.

Pendlebury ST et al. (2004) Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation.

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208.

Dedoussis GV et al. (2005) Wilson disease: high prevalence in a mountainous area of Crete.

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209.

Todorov T et al. (2005) Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.

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210.

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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211.

Barada K et al. (2007) Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease.

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212.

Luoma LM et al. (2010) Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.

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213.

Gourdon P et al. (2011) Crystal structure of a copper-transporting PIB-type ATPase.

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214.

Lei KJ et al. (1993) Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.

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215.

Chevalier-Porst F et al. (1996) Mutation analysis in 24 French patients with glycogen storage disease type 1a.

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216.

Parvari R et al. (1997) Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.

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217.

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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218.

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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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.

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220.

Ekstein J et al. (2004) Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.

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221.

Chowrimootoo GF et al. (1998) Caeruloplasmin isoforms in Wilson's disease in neonates.

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222.

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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223.

None (1999) Penicillamine: the treatment of first choice for patients with Wilson's disease.

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224.

None (1999) Penicillamine should not be used as initial therapy in Wilson's disease.

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225.

None (1999) Penicillamine as a controversial treatment for Wilson's disease.

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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.

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227.

Gow PJ et al. (2000) Diagnosis of Wilson's disease: an experience over three decades.

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228.

Gu M et al. (2000) Oxidative-phosphorylation defects in liver of patients with Wilson's disease.

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229.

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230.

Fitzgerald MA et al. (1975) Wilson's disease (hepatolenticular degeneration) of late adult onset: report of case.

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231.

None (2001) Postcremation diagnosis.

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232.

None (2001) Postcremation diagnosis.

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233.

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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234.

Hedera P et al. (2002) White matter changes in Wilson disease.

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235.

Hlubocká Z et al. (2002) Cardiac involvement in Wilson disease.

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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.

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237.

Wu ZY et al. (2003) Molecular diagnosis and prophylactic therapy for presymptomatic Chinese patients with Wilson disease.

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238.

None (1956) Penicillamine, a new oral therapy for Wilson's disease.

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239.

Cossu P et al. (1992) Prenatal diagnosis of Wilson's disease by analysis of DNA polymorphism.

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240.

None (1960) A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration).

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241.

LITIN RB et al. (1959) Hypercalciuria in hepatolenticular degeneration (Wilson's disease).

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242.

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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243.

Jung KH et al. (2005) Wilson disease with an initial manifestation of polyneuropathy.

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244.

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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245.

None (2006) Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.

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246.

Lang PA et al. (2007) Liver cell death and anemia in Wilson disease involve acid sphingomyelinase and ceramide.

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247.

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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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.

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249.

Alvarez HM et al. (2010) Tetrathiomolybdate inhibits copper trafficking proteins through metal cluster formation.

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250.

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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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.

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252.

Bonné-Tamir B et al. (1990) Wilson's disease in Israel: a genetic and epidemiological study.

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253.

Danks DM et al. (1990) Wilson's disease in adults with cirrhosis but no neurological abnormalities.

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254.

Figus A et al. (1989) Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.

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255.

Azizi E et al. (1989) Hypercalciuria and nephrolithiasis as a presenting sign in Wilson disease.

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256.

None (1988) Wilson's disease: yesterday, today, and tomorrow.

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257.

None (1988) Remembering Kinnier Wilson.

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258.

None (1988) Memories of my father [Kinnier Wilson].

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259.

Yuzbasiyan-Gurkan V et al. (1988) Linkage of the Wilson disease gene to chromosome 13 in North-American pedigrees.

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260.

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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261.

Bowcock AM et al. (1988) Eight closely linked loci place the Wilson disease locus within 13q14-q21.

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262.

Polson RJ et al. (1987) Reversal of severe neurological manifestations of Wilson's disease following orthotopic liver transplantation.

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263.

Brewer GJ et al. (1987) Treatment of Wilson's disease.

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264.

Menerey KA et al. (1988) The arthropathy of Wilson's disease: clinical and pathologic features.

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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.

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266.

None (1978) Diagnosis of treatable Wilson's disease.

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267.

Lingam S et al. (1987) Neurological abnormalities in Wilson's disease are reversible.

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268.

Czaja MJ et al. (1987) Molecular studies of ceruloplasmin deficiency in Wilson's disease.

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269.

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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270.

None (1987) Cardiac Wilson's disease.

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271.

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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272.

Sokol RJ et al. (1985) Orthotopic liver transplantation for acute fulminant Wilson disease.

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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.

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274.

Ross ME et al. (1985) Late-onset Wilson's disease with neurological involvement in the absence of Kayser-Fleischer rings.

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275.

Levi AJ et al. (1967) Presymptomatic Wilson's disease.

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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.

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277.

Shokeir MH et al. (1969) Cytochrome oxidase deficiency in Wilson's disease: a suggested ceruloplasmin function.

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278.

Wiebers DO et al. (1979) Renal stones in Wilson's disease.

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279.

None (1971) Investigations on the nature of ceruloplasmin deficiency in the newborn.

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280.

Sternlieb I et al. (1972) Chronic hepatitis as a first manifestation of Wilson's disease.

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281.

Cox DW et al. (1972) A genetic study of Wilson's disease: evidence for heterogeneity.

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282.

Slovis TL et al. (1971) The varied manifestations of Wilson's disease.

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283.

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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284.

Frommer D et al. (1977) Kayser-Fleischer-like rings in patients without Wilson's disease.

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285.

Whelton MJ et al. (1968) Azure lunules in Argyria. Corneal changes resembling Kayser-Fleischer Rings.

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286.

Holtzman NA et al. (1967) Ceruloplasmin in Wilson's disease.

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287.

Hoogenraad TU et al. (1983) 3 years of continuous oral zinc therapy in 4 patients with Wilson's disease.

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288.

None (1983) Evaluation of segregation ratio in Wilson's disease.

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289.

Carpenter TO et al. (1983) Hypoparathyroidism in Wilson's disease.

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290.

Owen CA et al. (1982) Inherited copper toxicosis in Bedlington terriers: Wilson's disease (hepatolenticular degeneration).

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291.

Factor SM et al. (1982) The cardiomyopathy of Wilson's disease. Myocardial alterations in nine cases.

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292.

Członkowska A et al. (1981) Late onset of Wilson's disease. Report of a family.

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293.

Dobyns WB et al. (1979) Clinical spectrum of Wilson's disease (hepatolenticular degeneration).

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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.

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295.

Devesa R et al. (1995) Wilson's disease treated with trientine during pregnancy.

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296.

None (1994) Dangers of interrupting decoppering treatment in Wilson's disease.

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297.

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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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.

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299.

Thomas GR et al. (1994) Haplotype studies in Wilson disease.

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300.

Lang CJ et al. (1993) Fatal deterioration of Wilson's disease after institution of oral zinc therapy.

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301.

Hoppe B et al. (1993) Hypercalciuria and nephrocalcinosis, a feature of Wilson's disease.

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302.

Petrukhin K et al. (1993) Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.

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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.

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304.

Passwell J et al. (1977) Heterogeneity of Wilson's disease in Israel.

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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.

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306.

van Wassenaer-van Hall HN et al. () Cranial MR in Wilson disease: abnormal white matter in extrapyramidal and pyramidal tracts.

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307.

Guarino M et al. (1995) No neurological improvement after liver transplantation for Wilson's disease.

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308.

Theophilos MB et al. (1996) The toxic milk mouse is a murine model of Wilson disease.

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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.

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310.

Huang L et al. (1997) A novel gene involved in zinc transport is deficient in the lethal milk mouse.

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311.

Brewer GJ et al. (1998) Treatment of Wilson's disease with zinc: XV long-term follow-up studies.

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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.

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313.

Burchell A et al. (1990) Diagnosis of a novel glycogen storage disease: type 1aSP.

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314.

Gadoth N et al. (1980) Transient external ophthalmoplegia in Wilson's disease.

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315.

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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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.

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317.

Brody LC et al. (1995) Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17.

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318.

Nakai K et al. (1994) Construction of a novel database containing aberrant splicing mutations of mammalian genes.

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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.

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320.

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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321.

None (1996) Treatment of Wilson's disease: the historical background.

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322.

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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323.

Weston BW et al. (2000) Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.

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Orphanet article

Orphanet ID 121980 external link
325.

NCBI article

NCBI 2538 external link
326.

OMIM.ORG article

Omim 613742 external link
327.

Wikipedia Artikel

Wikipedia DE (Glucose-6-Phosphatase) external link
Update: 14. August 2020
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