GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  De La Morena Barrio, Maria E ^a   Hernández Caselles, Trinidad ^b   Corral, Javier ^a   García López, Roberto ^b   Martínez Martínez, Irene ^a   Pérez Dueñas, Belen ^c   Altisent, Carmen ^d   Sevivas, Teresa ^e   Kristensen, Soren R ^f   Guillén Navarro, Encarna ^g   Miñano, Antonia ^a   Vicente, Vicente ^a   Jaeken, Jaak ^h   Lozano, Maria L ^a  

^a HOSPITAL UNIVERSITARIO MORALES MESEGUER   (Spain)

^b UNIVERSITY OF MURCIA   (Spain)

^c HOSPITAL SANT JOAN DE DÉU   (Spain)

^d HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^e CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^f AALBORG UNIVERSITY HOSPITAL   (Denmark)

^g HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^h UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

GPI anchor and GPI anchored proteins; N glycosylation defects; PMM2 CDG

Indexed keywords

CD14 ANTIGEN; CD16 ANTIGEN; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; LIVER PROTEIN; MONOCLONAL ANTIBODY; PHOSPHOMANNOMUTASE; PHOSPHOMANNOMUTASE 2; TRANSFERRIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; FLOW CYTOMETRY; GENE MUTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; NEUTROPHIL; WESTERN BLOTTING;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CONGENITAL DISORDERS OF GLYCOSYLATION; FEMALE; FLOW CYTOMETRY; GLYCOSYLPHOSPHATIDYLINOSITOLS; HUMANS; INFANT; MALE; MONOCYTES; MUTATION; NEUTROPHILS; PHOSPHOTRANSFERASES (PHOSPHOMUTASES);

EID: 84885517575     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-170     Document Type: Article

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