Carnitine-palmitoyltransferase 2 deficiency: Novel mutations and relevance of newborn screening

American Journal of Medical Genetics, Part A

Volumn 146, Issue 22, 2008, Pages 2925-2928

  Illsinger, Sabine ^a   Lücke, Thomas ^a   Peter, Michael ^b   Ruiter, Jos P N ^c   Wanders, Ronald J A ^c   Deschauer, Marcus ^d   Handig, Ingrid ^e   Wuyts, Wim ^e   Das, Anibh M ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b Screening Laboratory   (Germany)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^e ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Acylcarnitines; CPT2; Long chain fatty acid oxidation; Mutation; Newborn screening

Indexed keywords

ACYLCARNITINE; CARNITINE PALMITOYLTRANSFERASE; LONG CHAIN FATTY ACID;

ARTICLE; CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY; CASE REPORT; CONTROLLED STUDY; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; MALE; MITOCHONDRION; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY;

CARNITINE; CARNITINE O-PALMITOYLTRANSFERASE; CHILD, PRESCHOOL; HUMANS; INFANT, NEWBORN; MALE; MUTATION; MUTATION, MISSENSE; NEONATAL SCREENING; PHENOTYPE; SEQUENCE DELETION;

EID: 56049093485     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32545     Document Type: Article

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