Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): Evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program

Molecular Genetics and Metabolism

Volumn 73, Issue 1, 2001, Pages 55-63

  Prasad, C ^a   Johnson, J P ^b   Bonnefont, J P ^c   Dilling, L A ^a   Innes, A M ^a   Haworth, J C ^a   Beischel, L ^b   Thuillier, L ^c   Prip Buus, C ^d   Singal, R ^a   Thompson, J R G ^e   Prasad, A N ^a   Buist, N ^f   Greenberg, C R ^a  

^a UNIVERSITY OF MANITOBA   (Canada)

^b Shodair   (United States)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d CNRS   (France)

^e CADHAM PROVINCIAL LABORATORY   (Canada)

^f OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Autosomal recessive; Carnitine; Carnitine palmitoyl transferase (CPT1 A); Fatty acid oxidation defect; Founder effect; Hutterites; Newborn screening

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE;

ARTICLE; CHROMOSOME 11Q; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EARLY DIAGNOSIS; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FEMALE; GENE CLUSTER; GENE DELIVERY SYSTEM; GENE FREQUENCY; GENE ISOLATION; GENE MUTATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HYPOGLYCEMIA; INFANT; MALE; NEUROLOGIC DISEASE; NEWBORN SCREENING; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE;

EID: 18244386522     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3149     Document Type: Article

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