Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx

European Journal of Paediatric Neurology

Volumn 12, Issue 3, 2008, Pages 257-261

  Nsibu, N C ^a   Jaeken, J ^b   Carchon, H ^b   Mampunza, M ^a   Sturiale, L ^c   Garozzo, D ^c   Mashako, M N L ^a   Tshibassu, M P ^a  

^a UNIVERSITY OF KINSHASA   (Congo)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c CNR   (Italy)

Author keywords

CDG II; Congenital disorder of glycosylation; Congolese; MALDI TOF; N glycan; Transferrin isoelectrofocusing

Indexed keywords

GLYCAN DERIVATIVE; PLASMA PROTEIN;

ARTICLE; BACTERIAL INFECTION; BIOCHEMISTRY; CASE REPORT; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2X; FACE DYSMORPHIA; FEMALE; GROWTH RETARDATION; HUMAN; HUMAN TISSUE; INFANT; KLEBSIELLA PNEUMONIAE; LABORATORY TEST; LIVER DISEASE; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PSYCHOMOTOR RETARDATION; SKIN BIOPSY;

APOLIPOPROTEIN C-III; CARBOHYDRATE METABOLISM, INBORN ERRORS; DEMOCRATIC REPUBLIC OF THE CONGO; FEMALE; GLYCOSYLATION; HUMANS; INFANT; ISOELECTRIC FOCUSING; POLYSACCHARIDES; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION; TRANSFERRIN;

EID: 42149143095     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2007.07.012     Document Type: Article

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