Cerebrotendinous xanthomatosis: An inborn error in bile acid synthesis with defined mutations but still a challenge

Biochemical and Biophysical Research Communications ◽

10.1016/j.bbrc.2010.02.140 ◽

2010 ◽

Vol 396 (1) ◽

pp. 46-49 ◽

Author(s):

Ingemar Björkhem ◽

Magnus Hansson

Keyword(s):

Bile Acid ◽

Inborn Error ◽

Acid Synthesis ◽

Bile Acid Synthesis ◽

Cerebrotendinous Xanthomatosis

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An inborn error of bile acid synthesis (3 -hydroxy- 5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets

Archives of Disease in Childhood ◽

10.1136/adc.80.5.463 ◽

1999 ◽

Vol 80 (5) ◽

pp. 463-465 ◽

Author(s):

A. K Akobeng ◽

P. T Clayton ◽

V. Miller ◽

M. Super ◽

A. G Thomas

Keyword(s):

Bile Acid ◽

Inborn Error ◽

Dehydrogenase Deficiency ◽

Acid Synthesis ◽

Bile Acid Synthesis ◽

Steroid Dehydrogenase

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Faculty Opinions recommendation of ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.727022264.793529222 ◽

2017 ◽

Author(s):

Bruno Stieger

Keyword(s):

Bile Acid ◽

Inborn Error ◽

Acid Synthesis ◽

Bile Acid Synthesis

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Progressive intrahepatic cholestasis with normal $gamma;-glutamyltransferase is highly associated with the 3$beta;-hydroxysteroid dehydrogenase/isomerase deficiency, an inborn error in bile acid synthesis ? A new category of metabolic liver disease

10.1016/0270-9139(93)92240-z ◽

1993 ◽

Vol 18 (4) ◽

pp. A178 ◽

Author(s):

K SETCHELL

Keyword(s):

Liver Disease ◽

Bile Acid ◽

Intrahepatic Cholestasis ◽

Inborn Error ◽

Hydroxysteroid Dehydrogenase ◽

Acid Synthesis ◽

Bile Acid Synthesis ◽

Gamma Glutamyltransferase ◽

Metabolic Liver Disease

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ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia

Journal of Hepatology ◽

10.1016/j.jhep.2016.11.005 ◽

2017 ◽

Vol 66 (3) ◽

pp. 581-588 ◽

Author(s):

Maria J. Monte ◽

Marta Alonso-Peña ◽

Oscar Briz ◽

Elisa Herraez ◽

Carmen Berasain ◽

...

Keyword(s):

Bile Acid ◽

Inborn Error ◽

Acid Synthesis ◽

Bile Acid Synthesis

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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?

Pediatric Research ◽

10.1203/00006450-199504000-00007 ◽

1995 ◽

Vol 37 (4) ◽

pp. 424-431 ◽

Author(s):

Peter T Clayton ◽

Minne Casteels ◽

Giorgina Mieli-Vergani ◽

Alexander M Lawson

Keyword(s):

Bile Acid ◽

Urinary Excretion ◽

Inborn Error ◽

Acid Synthesis ◽

Bile Acid Synthesis ◽

Giant Cell Hepatitis

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Identification of a New Inborn Error in the Peroxisomal Steps of Bile Acid Synthesis Resulting in Accumulation of Toxic Bile Acid Intermediates and Hepatocellular Damage

Journal of Hepatology ◽

10.1016/s0168-8278(16)00388-3 ◽

2016 ◽

Vol 64 (2) ◽

pp. S301 ◽

Author(s):

M.J. Monte ◽

M. Alonso ◽

O. Briz ◽

E. Herraez ◽

R.R. Macias ◽

...

Keyword(s):

Bile Acid ◽

Inborn Error ◽

Acid Synthesis ◽

Bile Acid Synthesis ◽

Hepatocellular Damage

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Diagnosis and treatment of an inborn error of bile acid synthesis type 4: A case report

World Journal of Clinical Cases ◽

10.12998/wjcc.v9.i26.7923 ◽

2021 ◽

Vol 9 (26) ◽

pp. 7923-7929

Author(s):

Shou-Hao Wang ◽

Tian-Chen Hui ◽

Zhe-Wen Zhou ◽

Cheng-An Xu ◽

Wen-Hao Wu ◽

...

Keyword(s):

Case Report ◽

Bile Acid ◽

Inborn Error ◽

Acid Synthesis ◽

Bile Acid Synthesis ◽

Diagnosis And Treatment

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Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.

Journal of Clinical Investigation ◽

10.1172/jci2962 ◽

1998 ◽

Vol 102 (9) ◽

pp. 1690-1703 ◽

Author(s):

K D Setchell ◽

M Schwarz ◽

N C O'Connell ◽

E G Lund ◽

D L Davis ◽

...

Keyword(s):

Liver Disease ◽

Bile Acid ◽

Inborn Error ◽

Acid Synthesis ◽

Bile Acid Synthesis ◽

Hydroxylase Gene ◽

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

Journal of Clinical Investigation ◽

10.1172/jci113837 ◽

1988 ◽

Vol 82 (6) ◽

pp. 2148-2157 ◽

Author(s):

K D Setchell ◽

F J Suchy ◽

M B Welsh ◽

L Zimmer-Nechemias ◽

J Heubi ◽

...

Keyword(s):

Bile Acid ◽

Inborn Error ◽

Hepatitis A ◽

Acid Synthesis ◽

Bile Acid Synthesis ◽

Identical Twins ◽

Neonatal Hepatitis ◽

Reductase Deficiency

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Microbiome: Insights into Secondary Bile Acid Synthesis

PSI Structural Genomics Knowledgebase ◽

10.1038/sbkb.2012.158 ◽

2013 ◽

Author(s):

Stéphane Larochelle

Keyword(s):

Bile Acid ◽

Acid Synthesis ◽

Bile Acid Synthesis ◽

Secondary Bile Acid

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