Identification of a missense mutation in a patient with lethal carnitine acyl-carnitine carrier deficiency

L IJlst*, W Oostheim, KE Niezen-Koning, F Palmieri, Jos P. N. Ruiter

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingConference contributionAcademicpeer-review

Original languageEnglish
Title of host publicationCURRENT VIEWS OF FATTY ACID OXIDATION AND KETOGENESIS
EditorsPA Quant, S Eaton
Place of PublicationNEW YORK
PublisherKluwer Academic/Plenum Publishers
Pages347-351
Number of pages5
ISBN (Print)0-306-46200-1
Publication statusPublished - 1999
Event4th Fatty Acid Oxidation and Ketogenesis Conference - London
Duration: 3-Apr-19986-Apr-1998

Publication series

NameADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY
PublisherKLUWER ACADEMIC / PLENUM PUBL
Volume466
ISSN (Print)0065-2598

Conference

Conference4th Fatty Acid Oxidation and Ketogenesis Conference
CityLondon
Period03/04/199806/04/1998

Keywords

  • ACYLCARNITINE TRANSLOCASE
  • CLONING
  • CDNA

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