Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations

Journal of Pediatrics

Volumn 141, Issue 5, 2002, Pages 734-736

  Vladutiu, Georgirene D ^a,b,c,d,e   Quackenbush, Elizabeth J ^a,b,c,d,e   Hainline, Bryan E ^a,b,c,d,e   Albers, Simone ^a,b,c,d,e   Smail, David S ^a,b,c,d,e   Bennett, Michael J ^a,b,c,d,e  

^a CHILDREN S HOSPITAL OF BUFFALO   (United States)

^b UNIVERSITY AT BUFFALO   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d INDIANA UNIVERSITY   (United States)

^e UNIVERSITY OF TEXAS AT DALLAS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE;

ARTICLE; CASE REPORT; CLINICAL EXAMINATION; DISEASE SEVERITY; ENZYME DEFICIENCY; EXON; FATTY ACID METABOLISM; GENE MUTATION; HETEROZYGOSITY; HUMAN; INFANT; MALE; NEWBORN; PRIORITY JOURNAL;

EID: 0036842527     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpd.2002.128545     Document Type: Article

References (12)

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