Genetics of carnitine palmitoyltransferase II deficiencies

Advances in Experimental Medicine and Biology

Volumn 466, Issue , 2000, Pages 339-345

  Wieser, T ^a   Deschauer, M ^a   Zierz, S ^a  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE;

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY; CLINICAL FEATURE; CONFERENCE PAPER; ENZYME DEFICIENCY; FATTY ACID OXIDATION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; LIPID METABOLISM; METABOLIC DISORDER; MITOCHONDRION; MULTIPLE ORGAN FAILURE; MYOGLOBINURIA; PRIORITY JOURNAL; SKELETAL MUSCLE;

ADULT; CARNITINE O-PALMITOYLTRANSFERASE; GENES, LETHAL; HUMANS; INFANT, NEWBORN; ISOENZYMES; LIPID METABOLISM, INBORN ERRORS; LIVER; MUSCLE, SKELETAL; POINT MUTATION;

EID: 0034469592     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Conference Paper

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4. Immunoquantitative analysis of human carnitine palmitoyltransferase I and II defects
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14. Mitochondrial import and processing of rat liver carnitine palmitoyltransferase II defines the amino terminus of the mature protein. Possibility of differential modification of the rat and human isoforms
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24. A survey on intron and exon lengths
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27. Two novel gene mutations (Glu174→Lys, Phe383→Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency
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