Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia-Reference-Cited by-同舟云学术

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia

Published:1999-10 Issue:7 Volume:22 Page:811-814
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Ibdah J. A.¹,Dasouki M. J.²,Strauss A. W.³

Affiliation:

1. ; Division of Gastroenterology and Department of Internal Medicine; Wake Forest University School of Medicine; Winston-Salem North Carolina USA

2. ; Department of Pediatrics; Vanderbilt University; Nashville Tennessee USA

3. ; Departments of Pediatrics and Molecular Biology and Pharmacology; Washington University School of Medicine; St Louis Missouri USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005506024055/fullpdf

Reference13 articles.

1. Two a-subunit donor splice site mutations cause human trifunctional protein deficiency;Brackett;J Clin Invest,1995

2. Hypoparathyroidism in trifunctional protein deficiency;Dionisi-Vici;J Pediatr,1996

3. Clinical and biochemical presentation of longchain 3-hydroxyacyl-CoA dehydrogenase deficiency;Hagenfeldt;J Inher Metab Dis,1995

4. Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation;Ibdah;J Clin Invest,1998

5. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype;IJlst;J Inher Metab Dis,1995

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