Two novel gene mutations (Glu174→Lys, Phe383→Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency

Human Genetics

Volumn 98, Issue 1, 1996, Pages 116-118

  Yamamoto, Shigenori ^a   Abe, Hiroki ^a   Kohgo, Toshiaki ^a   Ogawa, Atushi ^a   Ohtake, Akira ^b   Hayashibe, Hidemasa ^b   Sakuraba, Hitoshi ^b   Suzuki, Yoshiyuki ^b   Aramaki, Shuichi ^c   Takayanagi, Masaki ^d   Hasegawa, Shuji ^e   Niimi, Hiroo ^a  

^a CHIBA UNIVERSITY   (Japan)

^b TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^c KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d CHIBA CHILDREN'S HOSPITAL   (Japan)

^e Chiba City Institute of Health and Environment   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

RAPHIA FRATER;

CARNITINE PALMITOYLTRANSFERASE; COMPLEMENTARY DNA;

ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; FLUID THERAPY; GENE MUTATION; GLUCOSE INFUSION; HUMAN; HUMAN CELL; INFANT; JAPAN; LIVER DISEASE; MALE; MUSCLE; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; SIBLING;

ALLELES; CARNITINE O-PALMITOYLTRANSFERASE; FEMALE; HETEROZYGOTE; HUMANS; INFANT; LIVER DISEASES; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN STRUCTURE, SECONDARY;

EID: 0029954698     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050170     Document Type: Article

References (10)

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2. Demaugre F, Bonnefont JP, Colonna M, Cepanec C, Leroux JP, Saudubray JM (1991) Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. J Clin Invest 87: 859-864
3. DiDonato S, Papadimitriou A (1986) Carnitine palmitoyltransferase deficiency. In: Engel AG, Banker BQ (eds) Myology, 1st edn. McGraw-Hill, New York, pp 1697-1708
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8. Saudubray JM, Coude FX, Demaugre F, Johnson C, Gibson KM, Nyhan WL (1982) Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation. Pediatr Res 16: 877-881
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