SCOPUS 정보 검색 플랫폼

Advances in Experimental Medicine and Biology

Volumn 466, Issue , 2000, Pages 347-351

Identification of a missense mutation in a patient with lethal carnitine acyl-carnitine carrier deficiency

(6) Ijlst, L a Ruiter, J P N a Oostheim, W a Niezen Koning, K E b Palmieri, F c Wanders, R J A a

a UNIVERSITY OF AMSTERDAM (Netherlands)

b UNIVERSITY MEDICAL CENTER GRONINGEN (Netherlands)

c UNIVERSITY OF BARI (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MYRISTIC ACID; PALMITIC ACID;

CARNITINE ACYL CARNITINE CARRIER DEFICIENCY; CLINICAL FEATURE; CONFERENCE PAPER; ENZYME ACTIVITY; FATTY ACID OXIDATION; FIBROBLAST; HUMAN; METABOLIC DISORDER; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; ANIMALS; CARDIOMYOPATHIES; CARNITINE ACYLTRANSFERASES; CARRIER PROTEINS; FATAL OUTCOME; FATTY ACIDS; FEMALE; HUMANS; INFANT; LIPID METABOLISM, INBORN ERRORS; MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; RATS; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0034468922 PISSN: 00652598 EISSN: None Source Type: Journal
DOI: None Document Type: Article

Times cited : (5)

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