Neonatal lethal mitochondrial trifunctional protein deficiency mimicking a respiratory chain defect-Reference-Cited by-同舟云学术

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Neonatal lethal mitochondrial trifunctional protein deficiency mimicking a respiratory chain defect

Published:1997-11 Issue:6 Volume:20 Page:835-836
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Grünewald S.¹,Bakkeren J.²,Wanders R. A.³,Wendel U.¹

Affiliation:

1. ; Department of Pediatrics; University Hospital of Düsseldorf; Düsseldorf D-40225 Germany

2. Department of Pediatrics; University Hospitals of Nijmegen; The Netherlands

3. ; Department of Pediatrics; University Hospital of Amsterdam; The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005340322558/fullpdf

Reference6 articles.

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

2. 3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment;Duran;Eur J Pediatr,1991

3. Combined enzyme defect of mitochondrial fatty acid oxidation;Jackson;J Clin Invest,1992

4. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder;Sewell;Eur J Pediatr,1994

5. Inhibitory effect of 3-hydroxyacyl-CoAs and other long-chain fatty acid β-oxidation intermediates on mitochondrial oxidative phosphorylation;Ventura;J Inher Metab Dis,1996

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2017-06

2. Fatty Acid beta-Oxidation Defects;2017

3. Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein;European Journal of Pediatrics;2015-06-13

4. From genome to phenome—Simple inborn errors of metabolism as complex traits;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2014-10

5. Pediatric cardiomyopathies related to fatty acid metabolism;Progress in Pediatric Cardiology;2008-04

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