ACOX2deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment
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Title
ACOX2deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment
Authors
Keywords
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Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 113, Issue 40, Pages 11289-11293
Publisher
Proceedings of the National Academy of Sciences
Online
2016-09-20
DOI
10.1073/pnas.1613228113
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- (2016) Francesca Mazzacuva et al. FEBS LETTERS
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- (2015) Tobias B. Haack et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
- (2015) Jessica X. Chong et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
- (2015) C. Dong et al. HUMAN MOLECULAR GENETICS
- A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3
- (2014) Sacha Ferdinandusse et al. HUMAN MOLECULAR GENETICS
- Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology
- (2014) Sílvia Vilarinho et al. JOURNAL OF HEPATOLOGY
- Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations
- (2014) Sílvia Vilarinho et al. JOURNAL OF HEPATOLOGY
- Mutations in TJP2 cause progressive cholestatic liver disease
- (2014) Melissa Sambrotta et al. NATURE GENETICS
- Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome
- (2013) Mathieu Lemaire et al. NATURE GENETICS
- Disorders of bile acid synthesis
- (2011) Peter Theodore Clayton JOURNAL OF INHERITED METABOLIC DISEASE
- Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
- (2010) Kaya Bilgüvar et al. NATURE
- Oral Cholic Acid for Hereditary Defects of Primary Bile Acid Synthesis: A Safe and Effective Long-term Therapy
- (2009) Emmanuel Gonzales et al. GASTROENTEROLOGY
- Toxicity of peroxisomal C27-bile acid intermediates
- (2009) Sacha Ferdinandusse et al. MOLECULAR GENETICS AND METABOLISM
- Mechanisms of Disease: inborn errors of bile acid synthesis
- (2008) Shikha S Sundaram et al. Nature clinical practice. Gastroenterology & hepatology
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