Carnitine-acylcarnitine translocase deficiency: Identification of a novel molecular defect in a Bedouin patient

Journal of Inherited Metabolic Disease

Volumn 27, Issue 2, 2004, Pages 267-273

  Galron, D ^a   Birk, O S ^a   Kazanovitz, A ^a   Moses, S W ^a   Hershkovitz, Elih ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; ALANINE; ARGININE; CARNITINE; CARRIER PROTEIN; GLUCOSE; GLUTAMINE; GLYCINE; MEDIUM CHAIN FATTY ACID;

AMINO ACID SUBSTITUTION; ARAB; ARTICLE; BIOCHEMISTRY; CASE REPORT; CLINICAL FEATURE; CONSANGUINITY; DEATH; DISEASE SEVERITY; EXON; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPERAMMONEMIA; HYPOGLYCEMIA; ISRAEL; MALE; METABOLIC DISORDER; MISSENSE MUTATION; MOLECULAR GENETICS; NEWBORN; NUCLEOTIDE SEQUENCE; NUTRITIONAL STATUS; PROTEIN DEFICIENCY;

ARABS; CARNITINE; CARNITINE ACYLTRANSFERASES; FATAL OUTCOME; HUMANS; INFANT, NEWBORN; ISRAEL; MALE; METABOLISM, INBORN ERRORS; MUTATION, MISSENSE; OXIDATION-REDUCTION;

EID: 2942592506     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000028780.01670.61     Document Type: Article

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