Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency

Journal of Inherited Metabolic Disease

Volumn 30, Issue 1, 2007, Pages 23-28

  Salomons, G S ^a   Jakobs, C ^a   Pope, Landegge ^a   Errami, A ^b   Potter, M ^c   Nowaczyk, M ^c   Olpin, S ^d   Manning, N ^d   Raiman, J A J ^e   Slade, T ^e   Champion, M P ^e   Peck, D ^f   Gavrilov, D ^f   Hillman, R ^f   Hoganson, G E ^g   Donaldson, K ^h   Shield, J P H ⁱ   Ketteridge, D ^j   Wasserstein, M ^k   Gibson, K Michael ^l  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MRC HOLLAND   (Netherlands)

^c MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^d SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^e GUY S HOSPITAL   (United Kingdom)

^f UNIVERSITY OF MISSOURI   (United States)

^g UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^h SOUTHMEAD HOSPITAL   (United Kingdom)

ⁱ UNIVERSITY OF BRISTOL   (United Kingdom)

^j WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^k MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^l CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CARNITINE; GENOMIC DNA; MALONIC ACID; MALONYL COENZYME A DECARBOXYLASE; MALONYLCARNITINE; MEDIUM CHAIN TRIACYLGLYCEROL; UNCLASSIFIED DRUG;

ACIDOSIS; ADOLESCENT; ARTICLE; CARDIOMYOPATHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME ANALYSIS; FAMILY HISTORY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; GROWTH RETARDATION; HUMAN; INBORN ERROR OF METABOLISM; INFANT; MALE; MALONYL COENZYME A DECARBOXYLASE DEFICIENCY; MULTIPLEX POLYMERASE CHAIN REACTION; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PHENOTYPE; SEIZURE; TANDEM MASS SPECTROMETRY; URINALYSIS; VITAMIN SUPPLEMENTATION;

ADOLESCENT; CARBOXY-LYASES; CHILD; CHILD, PRESCHOOL; EXONS; FEMALE; GENE DELETION; HUMANS; INFANT; MALE; MALONATES; METABOLISM, INBORN ERRORS; MODELS, BIOLOGICAL; MODELS, GENETIC; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 33846458254     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0514-6     Document Type: Article

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