Diagnosis of inherited disorders of liver metabolism.

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients. J Inherit Metab Dis (2012) 1.78

Bile acids: analysis in biological fluids and tissues. J Lipid Res (2010) 1.16

Significant hepatic involvement in patients with ornithine transcarbamylase deficiency. J Pediatr (2014) 0.90

Fatty Acid oxidation disorders in a chinese population in taiwan. JIMD Rep (2013) 0.84

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet (1997) 6.66

Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet (1997) 5.58

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet (2001) 2.71

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). Nat Genet (2002) 1.99

Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease. J Clin Invest (1998) 1.68

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet (2000) 1.68

Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherit Metab Dis (1999) 1.63

Inborn errors of sterol biosynthesis. Annu Rev Genomics Hum Genet (2001) 1.59

Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat Genet (2000) 1.58

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet (2001) 1.55

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. Nat Genet (1999) 1.47

Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance. J Pediatr (1999) 1.44

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com. Nat Genet (1999) 1.38

Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis. J Inherit Metab Dis (2002) 1.37

Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Am J Hum Genet (2001) 1.24

Lysosomal disorders. Semin Neonatol (2002) 1.21

Clinical phenotype of desmosterolosis. Am J Med Genet (1998) 1.17

Glucose phosphate isomerase deficiency as a cause of hydrops fetalis. N Engl J Med (1987) 1.11

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. Am J Hum Genet (2002) 1.08

Features of carnitine palmitoyltransferase type I deficiency. J Inherit Metab Dis (2001) 1.05

Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Nat Genet (1996) 1.01

Paraparesis, hypermanganesaemia, and polycythaemia: a novel presentation of cirrhosis. Arch Dis Child (2000) 1.01

Familial giant cell hepatitis with low bile acid concentrations and increased urinary excretion of specific bile alcohols: a new inborn error of bile acid synthesis? Pediatr Res (1995) 1.00

Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: possible link between racemase deficiency and malabsorption and vitamin K deficiency. Eur J Clin Invest (2001) 0.93

Histopathologic approach to metabolic liver disease: Part 1. Pediatr Dev Pathol (1999) 0.87

Delta 4-3-oxosteroid 5 beta-reductase deficiency: failure of ursodeoxycholic acid treatment and response to chenodeoxycholic acid plus cholic acid. Gut (1996) 0.87

Genetic and immunological characterization of fibrinogen inclusion bodies in patients with hepatic fibrinogen storage and liver disease. Ann N Y Acad Sci (2001) 0.86

An updated look at the analysis of unsaturated C27 sterols by gas chromatography and mass spectrometry. J Lipid Res (1997) 0.85

Familial hypermethioninemia partially responsive to dietary restriction. J Pediatr (1990) 0.84

Biochemical diagnosis of a fatal case of Günther's disease in a newborn with hydrops foetalis. Eur J Clin Chem Clin Biochem (1993) 0.84

An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets. Arch Dis Child (1999) 0.81

Inborn errors presenting with liver dysfunction. Semin Neonatol (2002) 0.81

Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome. Am J Med Genet (1995) 0.80

A defect in the transport of long-chain fatty acids associated with acute liver failure. N Engl J Med (1998) 0.79

Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency. Eur J Pediatr (2000) 0.77

Histopathologic approach to metabolic liver disease: Part 2. Pediatr Dev Pathol (1999) 0.75

Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis. Am J Med Genet (1999) 0.75