Congenital disorder of glycosylation type 1b. Experience with mannose treatment;Defecto congénito de glucosilación tipo Ib. Experiencia en el tratamiento con manosa

Anales de Pediatria

Volumn 69, Issue 4, 2008, Pages 358-365

  Martin Hernandez E ^a   Vega Pajares, A I ^b   Perez Gonzalez B ^b   Ecay Crespo, M J ^b   Leal Perez F ^b   Manzanares Lopez Manzanares J ^a   Ugarte Perez M ^b   Pérez Cerdá Silvestre, Celia ^b,c  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

^c UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

CDG Ib; Congenital disorders of glycosylation; Inborn errors of metabolism; Mannose; Phosphomannose isomerase

Indexed keywords

MANNOSE;

ARTICLE; BIOPSY; CASE REPORT; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1B; ENTEROPATHY; FAILURE TO THRIVE; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPOGLYCEMIA; INTESTINE VILLUS ATROPHY; MALE; TREATMENT OUTCOME;

EID: 54849439721     PISSN: 16954033     EISSN: 16959531     Source Type: Journal    
DOI: 10.1157/13126562     Document Type: Article

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