Transport of carnitine into cells in hereditary carnitine deficiency

Journal of Inherited Metabolic Disease
B O ErikssonI Nordin

Abstract

Carnitine uptake has been studied in fibroblasts from a case of hereditary carnitine deficiency and in relatives. There was no evidence for carrier-dependent uptake in cells from the patient. The mother and probably the healthy sister had an impaired uptake. The results show that the defect in this form of carnitine deficiency is an inability to establish a concentration gradient over the cell membrane.

References

Aug 1, 1988·European Journal of Pediatrics·B O ErikssonI Nordin
Nov 1, 1987·Proceedings of the National Academy of Sciences of the United States of America·D W SmithO Simell
Apr 15, 1982·Archives of Biochemistry and Biophysics·H H CarniceroS Seifter
Dec 11, 1980·The New England Journal of Medicine·P R ChapoyS D Cederbaum
Nov 18, 1980·Biochimica Et Biophysica Acta·P J Huth, A L Shug

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Citations

Jan 1, 1995·Journal of Inherited Metabolic Disease·P BrionesF García-Bragado
Aug 30, 1996·Clinica Chimica Acta; International Journal of Clinical Chemistry·I Tein, Z W Xie
Nov 12, 1991·Biochimica Et Biophysica Acta·A MartinuzziC Angelini
Apr 2, 1999·Early Human Development·C CampoyJ A Molina-Font
Dec 23, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ayman W El-HattabLee-Jun Wong
Jan 21, 2000·Journal of the European Academy of Dermatology and Venereology : JEADV·S GeorgalaT Michas
Jun 1, 1996·Archives of Disease in Childhood·J H Walter
Aug 26, 1998·Annual Review of Nutrition·J Kerner, C Hoppel
Mar 3, 1999·Proceedings of the National Academy of Sciences of the United States of America·Y WangN Longo
Jan 1, 1993·Progress in Histochemistry and Cytochemistry·J Ulrich
Sep 1, 1992·Scandinavian Journal of Clinical and Laboratory Investigation·E HolmeI Nordin
Nov 14, 1997·Pediatric Research·R PonsD C De Vivo
Aug 22, 2018·Journal of Cellular Biochemistry·Gilian GuerreiroCarmen Regla Vargas
Aug 2, 2003·Journal of Inherited Metabolic Disease·I Tein
Mar 24, 1999·Archives of Biochemistry and Biophysics·F ScagliaN Longo
Apr 28, 1997·Biochemical and Biophysical Research Communications·B Gustafson, L A Ransnäs
Feb 13, 1997·Biochemical and Biophysical Research Communications·B Gustafson, L A Ransnäs
Jul 24, 1998·Biochimica Et Biophysica Acta·B Gustafson, L A Ransnäs
Mar 23, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·F ScagliaN Longo

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