A Variable Myopathy Associated with Heterozygosity for the R503C Mutation in the Carnitine Palmitoyltransferase II Gene-Reference-Cited by-同舟云学术

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A Variable Myopathy Associated with Heterozygosity for the R503C Mutation in the Carnitine Palmitoyltransferase II Gene

Published:2000-06 Issue:2 Volume:70 Page:134-141
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Vladutiu Georgirene D.,Bennett Michael J.,Smail David,Wong Lee-Jun,Taggart R.Thomas,Lindsley Herbert B.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference39 articles.

2. Novel mutations associated with carnitine palmitoyltransferase II deficiency;Taggart;Hum Mut,1999

3. Observation on the affinity for carnitine, and malonyl-CoA sensitivity, of carnitine palmitoyltransferase I in animal and human tissues. Demonstration of the presence of malonyl-CoA in nonhepatic tissues of the rat;McGarry;Biochem J,1983

4. The mitochondrial carnitine palmitoyltransferase system: From concept to molecular analysis;McGarry;Eur J Biochem,1997

5. Fatty acid mitochondrial β-oxidation and hypoglycaemia in children;Taroni;Curr Opin Neurol,1996

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1. Prolonged neuraxial block following spinal anaesthesia in a patient with carnitine palmitoyl transferase II deficiency undergoing caesarean section;International Journal of Obstetric Anesthesia;2023-08

2. Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience;Molecular Genetics and Metabolism Reports;2020-09

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4. Malignant Hyperthermia;A Practice of Anesthesia for Infants and Children;2019

5. 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

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