Inherited metabolic diseases of the liver

Clinics in Liver Disease

Volumn 6, Issue 2, 2002, Pages 455-479

  Ishak, Kamal G ^a  

^a ARMED FORCES INSTITUTE OF PATHOLOGY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTICHYMOTRYPSIN; PIGMENT;

ACUTE HEPATITIS; CONGENITAL DISORDER OF GLYCOSYLATION; CYSTIC FIBROSIS; CYSTINOSIS; GAUCHER DISEASE; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 4; HEMOCHROMATOSIS; INTRAHEPATIC CHOLESTASIS; LIVER ADENOMA; LIVER CELL CARCINOMA; LIVER CIRRHOSIS; LIVER DISEASE; LIVER FIBROSIS; LIVER NECROSIS; LIVER VEIN THROMBOSIS; LYMPHOPROLIFERATIVE DISEASE; MALLORY BODY; METABOLIC DISORDER; MYOCLONUS EPILEPSY; NEWBORN HEPATITIS; NIEMANN PICK DISEASE; PEARSON SYNDROME; REVIEW; STEATOSIS; TANGIER DISEASE; VEIN OCCLUSION; WILSON DISEASE; WOLMAN DISEASE; ZELLWEGER SYNDROME; ALPHA 1 ANTITRYPSIN DEFICIENCY; CYTOPLASM; FATTY LIVER; HUMAN; HYPERTROPHY; LIVER; LIVER TUMOR; METABOLISM; PATHOLOGY;

ALPHA 1-ANTITRYPSIN DEFICIENCY; CHOLESTASIS, INTRAHEPATIC; CYTOPLASM; FATTY LIVER; HUMAN; HYPERTROPHY; LIVER; LIVER CIRRHOSIS; LIVER DISEASES; LIVER NEOPLASMS; PIGMENTS; HUMANS; PIGMENTS, BIOLOGICAL;

EID: 0036317439     PISSN: 10893261     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1089-3261(02)00013-2     Document Type: Review

References (110)

1. Wilson's disease presenting as chronic active hepatitis
2. Chronic hepatitis as a first manifestation of Wilson's disease
3. Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America
4. Liver disease in primary immunodeficiencies
5. Liver disease in children with hyper IgM syndrome
6. Liver disease in infancy and childhood
7. Metabolic errors and liver disease
8. Metabolic liver disease
9. Benign recurrent intrahepatic cholestasis. A report of 26 cases
10. Intrahepatic cholestatic of pregnancy: Molecular pathogenesis, diagnosis and management
11. Neonatal cholestasis as the presenting feature of cystic fibrosis
12. Neonatal Dubin-Johnson syndrome with severe cholestasis: Effective phenobarbital therapy
13. Bile-duct destruction and collagen deposition: A prominent ultrastructural feature of the liver in cystic fibrosis
14. Alagille syndrome is caused by mutations in human Jagged, which encodes a legend for Notch 1
15. Mutations in the human Jagged 1 gene are responsible for Alagille syndrome
16. Hereditary tyrosinemia type I (chronic form): Pathologic findings in the liver
17. Experience with 37 infants with tyrosinemia
18. Tyrosinemia: A review
19. Hereditary fructose intolerance in childhood. Diagnosis, management, and course in 55 patients
20. Galactosemia: A report of two fatal cases with giant cell transformation of the liver in one
21. Niemann-Pick disease and giant cell transformation of the liver
22. Niemann-Pick type C disease and early cholestasis in three brothers
23. Bile acid synthetic defects and liver disease
24. Familial giant cell hepatitis associated with synthesis of 3β, 7α-dihydroxy-and 3β, 7α, 12 α-trihydroxy-5-cholenoic acids
25. Identification of a new inborn error in bile acid synthesis: Mutation of the oxysterol 7α-hydroxylase gene causes severe neonatal liver disease
26. Neonatal hepatitis with paucity of interlobulabile ducts in CF
27. Glycogen storage disease, types I to X: Criteria for morphologic diagnosis
28. Hepatomegaly and abnormal liver tests due to the glycogenosis in adults with diabetes
29. Liver findings in Niemann-Pick disease type C
30. Cirrhosis and portal hypertension in a patient with adult Niemann-Pick disease
31. Cystic fibrosis with extensive fat replacement of the liver
32. Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): A light and electron microscopic study of the liver
33. Mitochondrial respiratory chain disorders and the liver
34. Disorders of the mitochondria
35. Steatohepatitis associated with total lipodystrophy
36. Sclerosing hyaline necrosis of the liver in Bloom syndrome
37. Nonalcoholic steatohepatitis and cryptogeniccirrhosis within kindreds
38. Endemic Tyrolean infantile cirrhosis: An ecogenetic disorder
39. Histology of the liver in Wilson's disease: A study of 34 cases
40. Liver abnormalities in patients with Gaucher's disease
41. Massive hepatic fibrosis in Gaucher's disease: Clinicopathological and radiological features
42. Lafora disease: Diagnosis by liver biopsy
43. Monoclonal antibody against polyglucosan isolated from the myocardium of a patient with Lafora disease
44. Ground-glass hepatocytes with Lafora body like inclusions - Histochemical, immunohistochemical and electron microscopic characterization
45. Use of a monoclonal antibody against Laforabodies for the immunocytochemical study of ground-glass inclusions in hepatocytes due to cyanamide
46. Hepatocellular ubiquitin expression in α-antitrypsin deficiency
47. Hepatocytic globules in end-stage hepatic disease. Relationship to alpha 1-antitrypsin phenotype
48. Detection of alpha-1-antitrypsin by SSCP and DNA sequencing in formalin-fixed and paraffin-embedded tissue: A comparison with immunohistochemical analysis
49. Risk of cirrhosis and primary liver cancer in alpha 1-antitrypsin deficiency
50. 1-antitrypsin deficiency
51. Familial alpha 1-antichymotrypsin deficiency
52. 1-antichymotrypsin and chronic liver disease
53. 1-antichymotrypsin globules within hepatocytes in patients with chronic hepatitis C and cirrhosis
54. Endoplasmic storage disease of liver: Characterization of intracytoplasmic hyaline inclusions
55. Fibrinogen Brescia: Hepatic endoplasmic reticulum storage and hypofibrinogenemia due to a y284Gly→Arg mutation
56. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): Evidence for heterogeneity
57. Cholesteryl ester storage disease: Hepatopathology and effects of therapy with lovastatin
58. Birefringence of hepatic pigment deposits in erythrohepatic protoporphyria
59. Fatal liver failure in protoporphyria. Synergism between ethanol excess and genetic defect
60. Cystic fibrosis
61. Hepatic familial amyloidosis caused by a new mutation in the apolipoprotein Al gene: Clinical and pathological features
62. Lipoamide dehydrogenase deficiency: A newly discovered cause of acute hepatitis in adults
63. Hepatic morphology and histochemistry of Wilson's disease as fulminant hepatic failure: A study of 11 cases
64. Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis
65. Liver fibrosis in arginase deficiency
66. Severe liver fibrosis in argininosuccinic aciduria
67. Hepatic fibrosis associated with hereditary cystinosis: Novel form of noncirrhotic portal hypertension
68. Perisinusoidal fibrosis of the liver in patients with thrombocytopenic purpura
69. Perisinusoidal fibrosis and basement membrane-like material in the livers of diabetic patients
70. Natural history of liver disease in cystic fibrosis
71. Cirrhosis in partial lipodystrophy
72. Neonatal adrenoleukodystrophy. Clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females
73. Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome
74. Metabolic cirrhosis of infancy and early childhood
75. Hepatic morphology in the inherited metabolic diseases
76. Familial hepatic veno-occlusive disease with probable immune deficiency
77. Defective humoral and cellular immune functions associated with veno-occlusive disease of the liver
78. Fatal course of veno-occlusive disease of the liver (endophlebitis hepatica obliterans) in a preterm infant
79. Veno-occlusive disease of the liver associated with cysteamine treatment of nephropathic cystinosis
80. Antithrombin III deficiency: An etiology of Budd-Chiari syndrome
81. Budd-Chiari syndrome and antithrombin III deficiency
82. Case 12-1996
83. Budd-Chiari syndrome attributed to protein C deficiency
84. Budd-Chiari syndrome: Combination of genetic defects and the use of oral contraceptives leading to hypercoagulability
85. Changes in the distribution of hepatic copper in relation to the progression of Wilson's disease (hepatolenticular degeneration)
86. Oxidative-phosphorylation defects in liver of patients with Wilson's disease
87. Disorders in glycosylation and potential therapy: Tip of the iceberg?
88. The carbohydrate-deficient glycoprotein syndromes: An overview
89. Intestinal, pancreatic and hepatic involvement in carbohydrate-deficient glycoprotein syndrome type I
90. Phosphomannose deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy
91. Liver pathology in the carbohydrate-deficient glycoprotein syndrome
92. Postmortem findings in two patients with the carbohydrate-deficient glycoprotein syndrome
93. Liver disease in Navajo neuropathy
94. Navajo neurohepatopathy. A mitochondrial DNA depletion syndrome
95. Microvesicular steatosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome
96. Hepatocellular adenomas in glycogen storage disease type I and III: A series of 43 patients and review of the literature
97. Preneoplastic significance of iron-free foci in genetic hemochromatosis: A study of 185 patients
98. Hepatocellular carcinoma associated with the inherited metabolic diseases
99. Type IIIb glycogen storage disease associated with end-stage cirrhosis and hepatocellular carcinoma
100. Hepatocellular carcinoma in Wilson's disease. Case report and review of the literature
101. Is heterozygous alpha-1-antitrypsin deficiency type PiZ a risk factor for primary liver carcinoma?
102. Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM
103. Clinical spectrum of X-linked hyper-IgM syndrome
104. Pathological findings in human autoimmune lymphoproliferative syndrome
105. Demonstration of needle-shaped hepatic inclusions in porphyria cutanea tarda using the ferric ferricyanide reduction test
106. Budd-Chiari syndrome associated with Factor V Leiden mutation: A report of 6 patients
107. Progressive familial intrahepatic cholestasis. Genetic basis and treatment