Neonatal carnitine palmitoyltransferase-2 deficiency: a case presenting with myopathy-Reference-Cited by-同舟云学术

Neonatal carnitine palmitoyltransferase-2 deficiency: a case presenting with myopathy

Published:1995-03 Issue:2 Volume:5 Page:129-137
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Land John M.,Mistry Sharad,Squier Marian,Hope Peter,Ghadiminejad Iraj,Orford Michael,Saggerson David

Funder

Medical Research Council

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference52 articles.

1. Malonyl-CoA binding site and the overt carnitine palmitoyltransferase activity reside on opposite sides of the mitochondrial outer membrane;Murthy,1990

2. Some differences in the properties of carnitine palmitoyltransferase activities of the mitochondrial inner and outer membranes;Murthy;Biochem J,1987

3. The relationship of rat liver overt carnitine palmitoyltransferase to the mitochondrial malonyl-CoA binding entity and to the latent palmitoyltransferase;Ghadiminejad;Biochem J,1990

4. A study of properties and abundance of the components of liver carnitine palmitoyltransferases in mitochondrial inner and outer membranes;Ghadiminejad;Biochem J,1991

5. Re-evaluation of the interaction of malonyl-CoA with the liver mitochondrial carnitine palmitoyltransferase system by using purified outer membranes;Kolodziej;Biochem J,1990

Cited by 14 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. Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development;JIMD Reports;2021-09-29

2. Phospholipids: Identification and Implication in Muscle Pathophysiology;International Journal of Molecular Sciences;2021-07-30

3. Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death;Molecular Genetics and Metabolism;2011-11

4. Severe Infantile Carnitine Palmitoyltransferase II Deficiency in 19-Week Fetal Sibs;Pediatric and Developmental Pathology;2009-12

5. A Sedentary Man with Acute Respiratory Failure and Myoglobinuria This case was reported in Bertorini T, Yeh Y, Trevisan C, et al: Carnitine palmitoyl transferase deficiency: Myoglobinuria and respiratory failure. Neurology 30(3):263–271, 1980.;Neuromuscular Case Studies;2008