Molecular diagnosis of congenital disorders of glycosylation;Diagnostic moléculaire des anomalies congénitales de la glycosylation: Prix international de la SFBC 2003

Annales de Biologie Clinique

Volumn 63, Issue 2, 2005, Pages 135-143

  Vuillaumier Barrot, S ^a  

^a BICHAT HOSPITAL   (France)

Author keywords

CDG; Congenital disorder of glycosylation; Diagnosis; Mutation

Indexed keywords

GLYCOSIDASE; GLYCOSYLTRANSFERASE; MANNOSE PHOSPHATE ISOMERASE;

ADULT; ALLELE; CHILD; COMPARATIVE STUDY; CONGENITAL DISORDER OF GLYCOSYLATION; DISORDERS OF CARBOHYDRATE METABOLISM; ENZYMOLOGY; FEMALE; FRANCE; GENE FREQUENCY; GENETICS; GLYCOSYLATION; HAPLOTYPE; HETEROZYGOTE; HUMAN; MALE; MUTATION; REVIEW;

ADULT; ALLELES; CARBOHYDRATE METABOLISM, INBORN ERRORS; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CHILD; FEMALE; FRANCE; GENE FREQUENCY; GENETIC RESEARCH; GLYCOSIDE HYDROLASES; GLYCOSYLATION; GLYCOSYLTRANSFERASES; HAPLOTYPES; HETEROZYGOTE; HUMANS; MALE; MANNOSE-6-PHOSPHATE ISOMERASE; MUTATION;

EID: 15944379269     PISSN: 00033898     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

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