Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C

Pathology International

Volumn 58, Issue 7, 2008, Pages 436-441

  Semba, Shuho ^a   Yasujima, Hidehiro ^b   Takano, Tomoko ^b   Yokozaki, Hiroshi ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Kobe Hospital of Japan Seafarers Relief Association   (Japan)

Author keywords

oxidation pathway; Acylcarnitine; Carnitine palmitoyltransferase II; Hepatocardiomegaly; Steatosis; Tandem mass spectrometry

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE;

ARTICLE; AUTOPSY; CARDIOPULMONARY ARREST; CLINICAL FEATURE; ENZYME DEFICIENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC IDENTIFICATION; HISTOPATHOLOGY; HUMAN; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY;

ATELECTASIS; AUTOPSY; CARDIOMEGALY; CARNITINE O-PALMITOYLTRANSFERASE; FEMALE; HEPATOMEGALY; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MALE; MUTATION; PEDIGREE; TANDEM MASS SPECTROMETRY;

EID: 44949121542     PISSN: 13205463     EISSN: 14401827     Source Type: Journal    
DOI: 10.1111/j.1440-1827.2008.02250.x     Document Type: Article

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