"Adult" form of muscular carnitine palmitoyltransferase II deficiency: Manifestation in a 2-year-old child

European Journal of Pediatrics

Volumn 160, Issue 9, 2001, Pages 548-551

  Gempel, Klaus ^a   Von Praun, Caroline ^b   Baumkötter, Jochen ^b   Lehnert, Willy ^c   Ensenauer, Regina ^c   Gerbitz, Klaus Dieter ^a   Bauer, Matthias F ^a  

^a Klinikum Schwabing   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Carnitine palmitoyltransferase; Muscular weakness; Myopathy; Tandem mass spectrometry

Indexed keywords

ACYLCARNITINE; CARNITINE PALMITOYLTRANSFERASE; CREATINE KINASE; PALMITIC ACID;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; ENZYME ASSAY; ENZYME DEFICIENCY; FEMALE; HUMAN; MUSCLE DISEASE; MUSCLE WEAKNESS; MYALGIA; MYOPATHY; OXIDATION; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY;

AGE OF ONSET; CARNITINE O-PALMITOYLTRANSFERASE; CASE-CONTROL STUDIES; CHILD; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; MASS SPECTROMETRY; MYOTONIC DISORDERS; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0035725631     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310100802     Document Type: Article

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