(Q33591444)

28 July 2017

1 reference

title

Inborn errors of bile acid biosynthesis and transport. Novel forms of metabolic liver disease (English)

1 reference

28 July 2017

1 reference

Balistreri WF

1

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28 July 2017

1 March 1999

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Gastroenterology Clinics of North America

28 July 2017

1 reference

28 July 2017

28

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28 July 2017

1

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28 July 2017

145-72, vii

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Histologic pathology of the liver in progressive familial intrahepatic cholestasis

28 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Fetal and neonatal bile acid synthesis and metabolism — Clinical implications

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Urinary excretion of dicarboxylic acids from patients with the Zellweger syndrome. Importance of peroxisomes in beta-oxidation of dicarboxylic acids

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Extrahepatic deposition and cytotoxicity of lithocholic acid: studies in two hamster models of hepatic failure and in cultured human fibroblasts.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Regulation of bile acid synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Inborn errors of bile acid metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

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?

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Delta 4-3-oxosteroid 5 beta-reductase deficiency: failure of ursodeoxycholic acid treatment and response to chenodeoxycholic acid plus cholic acid

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Screening techniques for the detection of inborn errors of bile acid metabolism by direct injection and micro-high performance liquid chromatography-continuous flow/fast atom bombardment mass spectrometry

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Bile acid abnormalities and the diagnosis of cerebro-hepato-renal syndrome (Zellweger syndrome).

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

The metabolism of 3alpha, 7alpha, 12alpha-trihydorxy-5beta-cholestan-26-oic acid in two siblings with cholestasis due to intrahepatic bile duct anomalies. An apparent inborn error of cholic acid synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome).

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency; effect of chenodeoxycholic acid therapy on liver histology

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Treatment of chronic liver disease caused by 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency with chenodeoxycholic acid

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Disruption of cholesterol 7alpha-hydroxylase gene in mice. I. Postnatal lethality reversed by bile acid and vitamin supplementation.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Evidence for defective primary bile acid secretion in children with progressive familial intrahepatic cholestasis (Byler disease)

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

A new cause of progressive intrahepatic cholestasis: 3 beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

New treatment strategy for Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Cloning and expression of cDNA of human delta 4-3-oxosteroid 5 beta-reductase and substrate specificity of the expressed enzyme

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Ultrastructure of the Liver in the Cerebrohepatorenal Syndrome of Zellweger

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Molecular cloning and sequence analysis of cDNA encoding delta 4-3-ketosteroid 5 beta-reductase of rat liver

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Cerebrotendinous xanthomatosis: treatments with simvastatin, lovastatin, and chenodeoxycholic acid in 3 siblings.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Clinical approach to inherited peroxisomal disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Bile acid biosynthesis

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Prenatal and perinatal diagnosis of peroxisomal disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Identification and characterization of a mouse oxysterol 7alpha-hydroxylase cDNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Disruption of cholesterol 7alpha-hydroxylase gene in mice. II. Bile acid deficiency is overcome by induction of oxysterol 7alpha-hydroxylase.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Oral bile acid treatment and the patient with zellweger syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

A biochemical abnormality in cerebrotendinous xanthomatosis. Impairment of bile acid biosynthesis associated with incomplete degradation of the cholesterol side chain

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Hepatic basolateral sodium-dependent-bile acid transporter expression in two unusual cases of hypercholanemia and in extrahepatic biliary atresia

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Delta 4-3-oxosteroid 5 beta-reductase deficiency causing neonatal liver failure and hemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Abnormal bile acid metabolism and neonatal hemochromatosis: a subset with poor prognosis

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Biochemistry of peroxisomes in health and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Differential interaction of bile acids from patients with inborn errors of bile acid synthesis with hepatocellular bile acid transporters

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Locus heterogeneity in progressive familial intrahepatic cholestasis

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Determination of 3-oxo-delta4- and 3-oxo-delta4,6-bile acids and related compounds in biological fluids of infants with cholestasis by gas chromatography-mass spectrometry

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Zellweger-like syndrome with detectable hepatic peroxisomes: a variant form of peroxisomal disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Bile acid profiles in siblings with progressive intrahepatic cholestasis: absence of biliary chenodeoxycholate

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Bile acid profiles in a peroxisomal D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Regulation of bile acid synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Peroxisomal bifunctional enzyme deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

Clinical and biochemical findings in progressive familial intrahepatic cholestasis

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

A new category of causes of intrahepatic cholestasis.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2805%2970048-0

7 January 2021

10.1016/S0889-8553(05)70048-0

Identifiers

DOI

1 reference

28 July 2017

1 reference

PubMed ID

10198783