Trifunctional protein deficiency: Three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation-Reference-Cited by-同舟云学术

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Trifunctional protein deficiency: Three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation

Published:2000-12 Issue:8 Volume:23 Page:826-834
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Chakrapani A.¹,Olpin S.²,Cleary M.¹,Walter J. H.¹,Wraith J. E.¹,Besley G. T. N.³

Affiliation:

1. ; Willink Biochemical Genetics Unit; Royal Manchester Children's Hospital; Manchester UK

2. ; Neonatal Screening Laboratory; Sheffield Children's Hospital; Sheffield UK

3. ; Willink Biochemical Genetics Unit; Royal Manchester Children's Hospital; Manchester M27 4HA UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1026712719416/fullpdf

Reference20 articles.

1. A fetal fatty acid oxidation disorder as a cause of liver disease in pregnant women;Ibdah;N Engl J Med,1999

2. Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterisation and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localisation of the mitochondrial trifunctional protein alpha subunit;IJlst;J Clin Invest,1996

3. Hepatic carnitine palmitoyl transferase I deficiency presenting as maternal illness in pregnancy;Innes;Pediatr Res 2000,2000

4. Maternal acute fatty liver of pregnancy associ-ated with fetal trifunctional protein deficiency: molecular characterisation of a novel maternal mutant allele;Isaacs;Pediatr Res,1996

5. A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the defects of fatty acid oxidation in intact cultured fibroblasts;Manning;J Inherit Metab Dis,1990

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1. Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders;Annals of Clinical and Translational Neurology;2024-01-23

2. Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature;European Journal of Medical Genetics;2021-12

3. The Acutely Ill Baby;Diseases of the Liver and Biliary System in Children;2017-01-07

4. Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency;Journal of Obstetrics and Gynaecology Research;2014-11-25

5. Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability;Journal of Inherited Metabolic Disease;2013-05-15

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