Congenital disorder of glycosylation type Ia in a Malaysian family: Clinical outcome and description of a novel PMM2 mutation

Journal of Inherited Metabolic Disease

Volumn 32, Issue SUPPL. 1, 2009, Pages

  Thong, M K ^a   Fietz, M ^b   Nicholls, C ^b   Lee, M H ^c   Asma, O ^a  

^a UNIVERSITY OF MALAYA   (Malaysia)

^b WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^c UNIVERSITY MALAYA MEDICAL CENTRE   (Malaysia)

Author keywords

[No Author keywords available]

Indexed keywords

MUTASE; PHOSPHOMANNOMUTASE 2, HUMAN;

AMINO ACID SEQUENCE; ARTICLE; ASIAN; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; ENZYMOLOGY; EXON; FATALITY; FEMALE; GENETIC COUNSELING; GENETICS; HETEROZYGOTE; HUMAN; INFANT; MALAYSIA; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATION; NEWBORN; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CONGENITAL DISORDERS OF GLYCOSYLATION; EXONS; FATAL OUTCOME; FEMALE; GENETIC COUNSELING; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALAYSIA; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84881007976     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1031-1     Document Type: Article

References (7)

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