Sialuria in a Portuguese girl: Clinical, biochemical, and molecular characteristics

Molecular Genetics and Metabolism

Volumn 67, Issue 2, 1999, Pages 131-137

  Ferreira, Helena ^a   Seppala, Raili ^b   Pinto, Rui ^c   Huizing, Marjan ^b   Martins, Esmeralda ^a   Braga, Ana Cristina ^a   Gomes, Lourenco ^a   Krasnewich, Donna M ^d   Sa Miranda, M Clara ^c   Gahl, William A ^b  

^a HOSPITAL MARIA PIA   (Portugal)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^d NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Allosterism; Feedback inhibition; Sialic acid; Sialuria; UDP GlcNAc 2 epimerase

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE; EPIMERASE; SIALIC ACID; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE;

ARTICLE; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; ENZYME INHIBITION; FACIES; FEMALE; FIBROBLAST; GENE MUTATION; HEPATOMEGALY; HUMAN; HUMAN CELL; METABOLIC DISORDER; PORTUGAL; PRIORITY JOURNAL; URINARY EXCRETION;

EID: 0032783547     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2852     Document Type: Article

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