Deficiency of subunit 6 of the conserved oligomeric golgi complex (COG6-CDG): Second patient, different phenotype

JIMD Reports

Volumn 4, Issue , 2012, Pages 103-108

  Huybrechts, S ^a   De Laet, C ^a   Bontems, P ^a   Rooze, S ^a   Souayah, H ^b   Sznajer, Y ^c   Sturiale, L ^d   Garozzo, D ^d   Matthijs, G ^e   Ferster, A ^a   Jaeken, J ^e   Goyens, P ^a  

^a HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^b SAINT PIERRE UNIVERSITY HOSPITAL   (Belgium)

^c CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^d Istituto di Chimica e Tecnologia dei Polimeri   (Italy)

^e UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Antibody deficiency; Chronic inflammatory bowel disease; Neutrophil dysfunction; Poor weight gain; Serum transferrin

Indexed keywords

EID: 84901267574     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2011_79     Document Type: Chapter

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