Carnitine Uptake Defect: Frameshift Mutations in the Human Plasmalemmal Carnitine Transporter Gene
- 18 November 1998
- journal article
- case report
- Published by Elsevier BV in Biochemical and Biophysical Research Communications
- Vol. 252 (2), 396-401
- https://doi.org/10.1006/bbrc.1998.9679
Abstract
No abstract availableKeywords
This publication has 20 references indexed in Scilit:
- Deficient Muscle Carnitine Transport in Primary Carnitine DeficiencyPediatric Research, 1997
- Characterization of the Human Plasmalemmal Carnitine Transporter in Cultured Skin FibroblastsArchives of Biochemistry and Biophysics, 1996
- Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptakeAnnals of Neurology, 1991
- Impaired Skin Fibroblast Carnitine Uptake in Primary Systemic Carnitine Deficiency Manifested by Childhood Carnitine-Responsive CardiomyopathyPediatric Research, 1990
- Primary Carnitine Deficiency Due to a Failure of Carnitine Transport in Kidney, Muscle, and FibroblastsNew England Journal of Medicine, 1988
- CARNITINEAnnual Review of Biochemistry, 1988
- The Pharmacology of CarnitineAnnual Review of Pharmacology and Toxicology, 1987
- Carnitine--metabolism and functionsPhysiological Reviews, 1983
- Carnitine transport in cultured muscle cells and skin fibroblasts from patients with primary systemic carnitine deficiencyIn Vitro Cellular & Developmental Biology - Plant, 1982
- Primary systemic carnitine dehciency. II. Renal handling of carnitineNeurology, 1981