Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia

Journal of Inherited Metabolic Disease

Volumn 25, Issue 8, 2002, Pages 635-646

  Briones, P ^a   Vilaseca, M A ^b   Schollen, E ^c   Ferrer, I ^b   Maties, M ^d   Busquets, C ^a   Artuch, R ^b   Gort, L ^a   Marco, M ^d   van Schaftingen, E ^e   Matthijs, G ^c   Jaeken, J ^f   Chabas A ^a  

^a Institut de Bioquimica Clinica Barcelona   (Spain)

^b HOSPITAL SANT JOAN DE DÉU   (Spain)

^c CENTER FOR HUMAN GENETICS   (Belgium)

^d HOSPITAL RAMÓN Y CAJAL   (Spain)

^e Laboratory of Physiology   (Belgium)

^f UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOMANNOMUTASE;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHEMICAL ANALYSIS; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL DISORDER; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; ENZYME DEFICIENCY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC HETEROGENEITY; GEOGRAPHY; HETEROZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; MALE; MOLECULAR BIOLOGY; PHENOTYPE; PORTUGAL; SCREENING; SOUTH AND CENTRAL AMERICA; SPAIN; STOP CODON;

EID: 0036975426     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1022825113506     Document Type: Article

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