Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency

Journal of Inherited Metabolic Disease

Volumn 32, Issue SUPPL. 1, 2009, Pages

  Komlosi K ^a   Magyari, L ^a   Talian G C ^a   Nemes, E ^b   Kaposzta R ^b   Mogyorosy G ^b   Mehes K ^a   Melegh, B ^a  

^a UNIVERSITY OF PÉCS   (Hungary)

^b UNIVERSITY OF DEBRECEN   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; ORGANIC CATION TRANSPORTER; SLC22A5 PROTEIN, HUMAN;

ADULT; ARTICLE; BLOOD; CASE CONTROL STUDY; CASE REPORT; CONSANGUINITY; ELECTROSPRAY MASS SPECTROMETRY; ENZYMOLOGY; FRAMESHIFT MUTATION; GENETICS; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMAN; INBORN ERROR OF METABOLISM; MALE; PRESCHOOL CHILD;

ADULT; CARNITINE; CASE-CONTROL STUDIES; CHILD, PRESCHOOL; CONSANGUINITY; FRAMESHIFT MUTATION; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; MALE; METABOLISM, INBORN ERRORS; ORGANIC CATION TRANSPORT PROTEINS; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION;

EID: 84881014537     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-0926-1     Document Type: Article

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