The heterogenous group of hereditary liver diseases includes metabolic disorders that lead to chronic liver damage and malformationsthat result in chronic dysfunction.
1. |
de Sousa M et al. (1994) Iron overload in beta 2-microglobulin-deficient mice. |
2. |
Milet J et al. (2007) Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. |
3. |
Hentze MW et al. (1986) Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene. |
4. |
Cragg SJ et al. (1985) Genes for the 'H' subunit of human ferritin are present on a number of human chromosomes. |
5. |
Roy CN et al. (2001) Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers. |
6. |
Halsall DJ et al. (2003) Typical type 2 diabetes mellitus and HFE gene mutations: a population-based case - control study. |
7. |
Simon M et al. (1977) Heredity of idiopathic haemochromatosis. |
8. |
Halliday JW et al. (1977) Serum-ferritin in diagnosis of haemochromatosis. A study of 43 families. |
9. |
Cox TM et al. (1978) Uptake of iron by duodenal biopsy specimens from patients with iron-deficiency anaemia and primary haemochromatosis. |
10. |
Sargent T et al. (1979) Reduced chromium retention in patients with hemochromatosis, a possible basis of hemochromatotic diabetes. |
11. |
Feller ER et al. (1977) Familial hemochromatosis. Physiologic studies in the precirrhotic stage of the disease. |
12. |
Beaumont C et al. (1979) Serum ferritin as a possible marker of the hemochromatosis allele. |
13. |
Cartwright GE et al. (1979) Hereditary hemochromatosis. Phenotypic expression of the disease. |
14. |
None (1979) Genetic linkage and hemosiderosis. |
15. |
Kravitz K et al. (1979) Genetic linkage between hereditary hemochromatosis and HLA. |
16. |
Walsh CH et al. (1978) Proliferative retinopathy in a patient with diabetes mellitus and idiopathic haemochromatosis. |
17. |
Lipinski M et al. (1978) Idiopathic hemochromatosis: linkage with HLA. |
18. |
Kühnl P et al. (1978) HLA antigens in patients with idiopathic hemochromatosis (IH). |
19. |
Cartwright GE et al. (1978) Inheritance of hemochromatosis: linkage to HLA. |
20. |
Lamon JM et al. (1979) Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people. |
21. |
None (1979) Clinical conferences at The Johns Hopkins Hospital. Familial hemochromatosis. |
22. |
Simon M et al. (1977) Heredity of idiopathic haemochromatosis: a study of 106 families. |
23. |
Edwards CQ et al. (1977) Hereditary hemochromatosis. Diagnosis in siblings and children. |
24. |
Rowe JW et al. (1977) Familial hemochromatosis: characteristics of the precirrhotic stage in a large kindred. |
25. |
Simon M et al. (1977) Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing. |
26. |
Wands JR et al. (1976) Normal serum ferritin concentrations in precirrhotic hemochromatosis. |
27. |
Simon M et al. (1976) Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis. |
28. |
Boretto J et al. (1992) Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis. |
29. |
Yaouanq J et al. (1992) Familial screening for genetic haemochromatosis by means of DNA markers. |
30. |
Kaikov Y et al. (1992) Primary hemochromatosis in children: report of three newly diagnosed cases and review of the pediatric literature. |
31. |
Rabinovitz M et al. (1992) Association between heterozygous alpha 1-antitrypsin deficiency and genetic hemochromatosis. |
32. |
Milman N et al. (1992) An HLA study in 74 Danish haemochromatosis patients and in 21 of their families. |
33. |
Zappone E et al. (1991) Polymorphism in a ferritin H gene from chromosome 6p. |
34. |
None (1992) Intrafamilial variation in hereditary hemochromatosis. |
35. |
Milman N et al. (1992) Transferrin subtypes in 51 Danish patients with hereditary haemochromatosis and in 847 normal subjects. |
36. |
Summers KM et al. (1991) Fine mapping of a human chromosome 6 ferritin heavy chain pseudogene: relevance to haemochromatosis. |
37. |
Dokal I et al. (1991) Detection of hereditary haemochromatosis in an HLA-identical pedigree showing discordance between HLA class I genes and the disease locus. |
38. |
Bullen JJ et al. (1991) Hemochromatosis, iron and septicemia caused by Vibrio vulnificus. |
39. |
None (1991) Hereditary haemochromatosis in Denmark 1950-1985. Clinical, biochemical and histological features in 179 patients and 13 preclinical cases. |
40. |
Jouanolle AM et al. (1990) HLA class I gene polymorphism in genetic hemochromatosis. |
41. |
Lord DK et al. (1990) Molecular analysis of the human MHC class I region in hereditary haemochromatosis. A study by pulsed-field gel electrophoresis. |
42. |
Dugast IJ et al. (1990) Identification of two human ferritin H genes on the short arm of chromosome 6. |
43. |
Leggett BA et al. (1990) Prevalence of haemochromatosis amongst asymptomatic Australians. |
44. |
Borecki IB et al. (1990) Percent transferrin saturation in segregating hemochromatosis. |
45. |
Milman N et al. (1990) Family studies of hereditary hemochromatosis in Denmark and the Faroe Islands. |
46. |
Borecki IB et al. (1990) Combined segregation and linkage analysis of genetic hemochromatosis using affection status, serum iron, and HLA. |
47. |
David V et al. (1989) Ferritin H gene polymorphism in idiopathic hemochromatosis. |
48. |
Summers KM et al. (1989) HLA determinants in an Australian population of hemochromatosis patients and their families. |
49. |
Borecki IB et al. (1989) Segregation of genetic hemochromatosis indexed by latent capacity of transferrin. |
50. |
Cragg SJ et al. (1988) HLA class I and H ferritin gene polymorphisms in normal subjects and patients with haemochromatosis. |
51. |
David V et al. (1986) DNA polymorphism related to the idiopathic hemochromatosis gene: evidence in a recombinant family. |
52. |
Meyer TE et al. (1987) The HLA linked iron loading gene in an Afrikaner population. |
53. |
Lucotte G et al. (1986) Association between a 10 kb Pvu II restriction fragment of genomic DNA with the hemochromatosis gene. |
54. |
Diamond T et al. (1989) Osteoporosis in hemochromatosis: iron excess, gonadal deficiency, or other factors? |
55. |
McGill JR et al. (1987) Human ferritin H and L sequences lie on ten different chromosomes. |
56. |
None (1988) Immune tolerance in nonhemophilic patients with antibodies to factor VIII. |
57. |
Karlsson M et al. (1988) Prevalence of hemochromatosis in Finland. |
58. |
Milman N et al. (1988) HLA determinants in 70 Danish patients with idiopathic haemochromatosis. |
59. |
Edwards CQ et al. (1988) Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. |
60. |
Edwards CQ et al. (1986) Mapping the locus for hereditary hemochromatosis: localization between HLA-B and HLA-A. |
62. |
Powell LW et al. (1987) Genetic hemochromatosis and HLA linkage. |
63. |
Eriksson S et al. (1986) A Swedish family with alpha 1-antitrypsin deficiency, haemochromatosis, haemoglobinopathy D and early death in liver cirrhosis. |
64. |
Siemons LJ et al. (1987) Hypogonadotropic hypogonadism in hemochromatosis: recovery of reproductive function after iron depletion. |
65. |
Escobar GJ et al. (1987) Primary hemochromatosis in childhood. |
66. |
Niederau C et al. (1985) Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. |
67. |
MacSween RN et al. (1973) Hepatic cirrhosis: a clinico-pathological review of 520 cases. |
68. |
Saddi R et al. (1974) Idiopathic haemochromatosis: an autosomal recessive disease. |
69. |
Balcerzak SP et al. (1966) Idiopathic hemochromatosis. A study of three families. |
70. |
Charlton RW et al. (1967) Idiopathic hemochromatosis in young subjects. Clinical, pathological, and chemical findings in four patients. |
71. |
Felts JH et al. (1967) Hemochromatosis in two young sisters. Case studies and a family survey. |
72. |
Cazzola M et al. (1983) Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism. |
73. |
Ritter B et al. (1984) HLA as a marker of the hemochromatosis gene in Sweden. |
74. |
Le Mignon L et al. (1983) An HLA-All association with the hemochromatosis allele? |
75. |
Anand S et al. () Idiopathic hemochromotosis and alpha-1-antitrypsin deficiency: coexistence in a family with progressive liver disease in the proband. |
76. |
Olsson KS et al. (1984) Screening for iron overload using transferrin saturation. |
77. |
Muir WA et al. (1984) Evidence for heterogeneity in hereditary hemochromatosis. Evaluation of 174 persons in nine families. |
78. |
Olsson KS et al. (1983) Prevalence of iron overload in central Sweden. |
79. |
Dadone MM et al. (1982) Hereditary hemochromatosis. Analysis of laboratory expression of the disease by genotype in 18 pedigrees. |
80. |
Bassett ML et al. (1982) Idiopathic hemochromatosis: demonstration of homozygous-heterozygous mating by HLA typing of families. |
81. |
None (1982) A foundation for hemochromatosis. |
82. |
Edwards CQ et al. (1981) Hereditary hemochromatosis: contributions of genetic analyses. |
83. |
Simon M et al. (1980) Idiopathic hemochromatosis: a study of biochemical expression in 247 heterozygous members of 63 families: evidence for a single major HLA-linked gene. |
84. |
Beaumont C et al. (1980) Hepatic and serum ferritin concentrations in patients with idiopathic hemochromatosis. |
85. |
Valberg LS et al. (1980) Clinical and biochemical expression of the genetic abnormality in idiopathic hemochromatosis. |
86. |
Edwards CQ et al. (1980) Homozygosity for hemochromatosis: clinical manifestations. |
87. |
Cutler DJ et al. (1980) Hemochromatosis heart disease: an unemphasized cause of potentially reversible restrictive cardiomyopathy. |
88. |
Elzouki AN et al. (1995) Increased PiZ gene frequency for alpha 1 antitrypsin in patients with genetic haemochromatosis. |
89. |
Hashimoto K et al. (1995) A gene outside the human MHC related to classical HLA class I genes. |
90. |
Calandro LM et al. (1995) Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F. |
91. |
Jazwinska EC et al. (1995) Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis. |
92. |
Barton JC et al. (1994) Blood lead concentrations in hereditary hemochromatosis. |
93. |
None () A prevalence and fertility study of haemochromatosis in Saguenay-Lac-Saint-Jean. |
94. |
Jazwinska EC et al. (1993) Localization of the hemochromatosis gene close to D6S105. |
95. |
Deugnier YM et al. (1993) Primary liver cancer in genetic hemochromatosis: a clinical, pathological, and pathogenetic study of 54 cases. |
96. |
Raha-Chowdhury R et al. (1996) A new highly polymorphic marker in the 5' untranslated region of HLA-F shows strong allelic association with haemochromatosis. |
97. |
Rothenberg BE et al. (1996) beta2 knockout mice develop parenchymal iron overload: A putative role for class I genes of the major histocompatibility complex in iron metabolism. |
98. |
None (1996) Haemochromatosis: strike while the iron is hot. |
99. |
Feder JN et al. (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. |
100. |
Jazwinska EC et al. (1996) Haemochromatosis and HLA-H. |
101. |
Jouanolle AM et al. (1996) Haemochromatosis and HLA-H. |
102. |
Bulaj ZJ et al. (1996) Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. |
103. |
Robson KJ et al. (1997) Haemochromatosis: a gene at last? |
104. |
Carella M et al. (1997) Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. |
105. |
Beutler E et al. (1997) HLA-H mutations in the Ashkenazi Jewish population. |
106. |
Beutler E et al. (1997) HLA-H and associated proteins in patients with hemochromatosis. |
107. |
None (1997) The significance of the 187G (H63D) mutation in hemochromatosis. |
108. |
Beckman LE et al. () Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism. |
109. |
Parkkila S et al. (1997) Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. |
110. |
None (1997) Haemochromatosis, HFE and genetic complexity. |
111. |
None (1998) Targeted disruption of the HFE gene. |
112. |
Zhou XY et al. (1998) HFE gene knockout produces mouse model of hereditary hemochromatosis. |
113. |
Lalouel JM et al. (1985) Genetic analysis of idiopathic hemochromatosis using both qualitative (disease status) and quantitative (serum iron) information. |
114. |
Piperno A et al. (1998) Heterogeneity of hemochromatosis in Italy. |
115. |
Pérez Roldán F et al. (1998) Hemochromatosis presenting as acute liver failure after iron supplementation. |
116. |
Lonjou C et al. (1998) Allelic association under map error and recombinational heterogeneity: a tale of two sites. |
117. |
Burt MJ et al. (1998) The significance of haemochromatosis gene mutations in the general population: implications for screening. |
118. |
Powell LW et al. (1998) Diagnosis of hemochromatosis. |
119. |
Barton JC et al. (1998) Management of hemochromatosis. Hemochromatosis Management Working Group. |
120. |
Looker AC et al. (1998) Prevalence of elevated serum transferrin saturation in adults in the United States. |
121. |
Phatak PD et al. (1998) Prevalence of hereditary hemochromatosis in 16031 primary care patients. |
122. |
Brittenham GM et al. (1998) Research priorities in hereditary hemochromatosis. |
123. |
Waheed A et al. (1999) Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum. |
124. |
Fleming RE et al. (1999) Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1. |
125. |
Roy CN et al. (1999) The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. |
126. |
Rochette J et al. (1999) Multicentric origin of hemochromatosis gene (HFE) mutations. |
127. |
Merryweather-Clarke AT et al. (1999) A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations. |
128. |
Grove J et al. (1998) Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease. |
129. |
Zoller H et al. (1999) Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis. |
130. |
Olynyk JK et al. (1999) A population-based study of the clinical expression of the hemochromatosis gene. |
131. |
Bahram S et al. (1999) Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism. |
132. |
Willis G et al. (2000) Incidence of liver disease in people with HFE mutations. |
133. |
Hickman PE et al. (2000) Automated measurement of unsaturated iron binding capacity is an effective screening strategy for C282Y homozygous haemochromatosis. |
134. |
Griffiths W et al. (2000) Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism. |
135. |
Hussain SP et al. (2000) Increased p53 mutation load in nontumorous human liver of wilson disease and hemochromatosis: oxyradical overload diseases. |
136. |
Bulaj ZJ et al. (2000) Disease-related conditions in relatives of patients with hemochromatosis. |
137. |
Fleming RE et al. (2001) Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis. |
138. |
Brown AS et al. () Hemochromatosis-associated morbidity in the United States: an analysis of the National Hospital Discharge Survey, 1979-1997. |
139. |
Sproule TJ et al. (2001) Naturally variant autosomal and sex-linked loci determine the severity of iron overload in beta 2-microglobulin-deficient mice. |
140. |
Steinberg KK et al. (2001) Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. |
141. |
Barton JC et al. () Diagnosis of hemochromatosis in family members of probands: a comparison of phenotyping and HFE genotyping. |
142. |
Pozzato G et al. (2001) Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry. |
143. |
Cairo G et al. (2001) Reduced serum ceruloplasmin levels in hereditary haemochromatosis. |
144. |
Barton JC et al. () Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency. |
145. |
Mura C et al. (2001) Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs. |
146. |
de Juan D et al. (2001) HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls. |
147. |
Townsend A et al. (2002) Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload. |
148. |
Trinder D et al. (2002) Iron uptake from plasma transferrin by the duodenum is impaired in the Hfe knockout mouse. |
149. |
Hofmann WK et al. (2002) Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis. |
150. |
Nicolas G et al. (2003) Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis. |
151. |
Muckenthaler M et al. (2003) Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis. |
152. |
Milman N et al. (2003) Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings. |
153. |
Merryweather-Clarke AT et al. (2003) Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. |
155. |
DEBRE R et al. (1958) Genetics of haemochromatosis. |
156. |
BOTHWELL TH et al. (1959) A familial study in idiopathic hemochromatosis. |
157. |
PERKINS KW et al. (1965) IDIOPATHIC HAEMOCHROMATOSIS IN CHILDREN; REPORT OF A FAMILY. |
158. |
JOHNSON GB et al. (1962) Familial aspects of idiopathic hemochromatosis. |
159. |
Roy CN et al. (2004) An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice. |
160. |
None (2004) Hereditary hemochromatosis--a new look at an old disease. |
161. |
Le Gac G et al. (2004) The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. |
162. |
Distante S et al. (2004) The origin and spread of the HFE-C282Y haemochromatosis mutation. |
163. |
Lee PL et al. (2004) Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis. |
164. |
Valenti L et al. (2004) The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis. |
165. |
McDermott JH et al. (2005) Hypogonadism in hereditary hemochromatosis. |
166. |
Drakesmith H et al. (2005) HIV-1 Nef down-regulates the hemochromatosis protein HFE, manipulating cellular iron homeostasis. |
167. |
Matas M et al. (2006) Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity. |
169. |
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170. |
Adams PC et al. (2007) Haemochromatosis. |
171. |
Le Gac G et al. (2008) Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype. |
172. |
Loudianos G et al. (1999) Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. |
173. |
Okada T et al. (2000) Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. |
174. |
Forbes JR et al. (2000) Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. |
175. |
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. |
176. |
Takeshita Y et al. (2002) Two families with Wilson disease in which siblings showed different phenotypes. |
177. |
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. |
178. |
Gupta A et al. (2005) Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. |
180. |
Park S et al. (2007) Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. |
181. |
Park HD et al. (2009) Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population. |
182. |
Wang LH et al. (2011) Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation. |
183. |
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184. |
Thomas GR et al. (1995) Wilson disease in Iceland: a clinical and genetic study. |
185. |
Thomas GR et al. (1995) Haplotypes and mutations in Wilson disease. |
186. |
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. |
187. |
Bull PC et al. (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. |
188. |
Tanzi RE et al. (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. |
189. |
Figus A et al. (1995) Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. |
190. |
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191. |
Kim EK et al. (1998) Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. |
192. |
Loudianos G et al. (1998) Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. |
193. |
Duc HH et al. () His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype. |
194. |
Chowrimootoo GF et al. (1998) Caeruloplasmin isoforms in Wilson's disease in neonates. |
195. |
Ferlan-Marolt V et al. (1999) Fulminant Wilsonian hepatitis unmasked by disease progression: report of a case and review of the literature. |
196. |
None (1999) Penicillamine: the treatment of first choice for patients with Wilson's disease. |
197. |
None (1999) Penicillamine should not be used as initial therapy in Wilson's disease. |
198. |
None (1999) Penicillamine as a controversial treatment for Wilson's disease. |
199. |
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. |
200. |
Gow PJ et al. (2000) Diagnosis of Wilson's disease: an experience over three decades. |
201. |
Gu M et al. (2000) Oxidative-phosphorylation defects in liver of patients with Wilson's disease. |
202. |
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203. |
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204. |
None (2001) Postcremation diagnosis. |
205. |
None (2001) Postcremation diagnosis. |
206. |
Olivarez L et al. (2001) Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach. |
207. |
Hedera P et al. (2002) White matter changes in Wilson disease. |
208. |
Hlubocká Z et al. (2002) Cardiac involvement in Wilson disease. |
209. |
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. |
210. |
Wu ZY et al. (2003) Molecular diagnosis and prophylactic therapy for presymptomatic Chinese patients with Wilson disease. |
211. |
None (1956) Penicillamine, a new oral therapy for Wilson's disease. |
212. |
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213. |
None (1960) A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration). |
214. |
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215. |
Scheffer H et al. (1992) Identification of crossovers in Wilson disease families as reference points for a genetic localization of the gene. |
216. |
Jung KH et al. (2005) Wilson disease with an initial manifestation of polyneuropathy. |
218. |
None (2006) Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. |
219. |
Lang PA et al. (2007) Liver cell death and anemia in Wilson disease involve acid sphingomyelinase and ceramide. |
220. |
de Bie P et al. (2007) Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. |
221. |
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. |
222. |
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223. |
Li Y et al. (1991) Spontaneous hepatic copper accumulation in Long-Evans Cinnamon rats with hereditary hepatitis. A model of Wilson's disease. |
224. |
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. |
225. |
Bonné-Tamir B et al. (1990) Wilson's disease in Israel: a genetic and epidemiological study. |
226. |
Danks DM et al. (1990) Wilson's disease in adults with cirrhosis but no neurological abnormalities. |
227. |
Figus A et al. (1989) Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis. |
228. |
Azizi E et al. (1989) Hypercalciuria and nephrolithiasis as a presenting sign in Wilson disease. |
229. |
None (1988) Wilson's disease: yesterday, today, and tomorrow. |
230. |
None (1988) Remembering Kinnier Wilson. |
231. |
None (1988) Memories of my father [Kinnier Wilson]. |
232. |
Yuzbasiyan-Gurkan V et al. (1988) Linkage of the Wilson disease gene to chromosome 13 in North-American pedigrees. |
233. |
Farrer LA et al. (1988) Predicting genotypes at loci for autosomal recessive disorders using linked genetic markers: application to Wilson's disease. |
234. |
Bowcock AM et al. (1988) Eight closely linked loci place the Wilson disease locus within 13q14-q21. |
235. |
Polson RJ et al. (1987) Reversal of severe neurological manifestations of Wilson's disease following orthotopic liver transplantation. |
236. |
Brewer GJ et al. (1987) Treatment of Wilson's disease. |
237. |
Menerey KA et al. (1988) The arthropathy of Wilson's disease: clinical and pathologic features. |
238. |
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. |
239. |
None (1978) Diagnosis of treatable Wilson's disease. |
240. |
Lingam S et al. (1987) Neurological abnormalities in Wilson's disease are reversible. |
241. |
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242. |
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