Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1812, Issue 6, 2011, Pages 691-698

  Mohamed, M ^a   Guillard, M ^a   Wortmann, S B ^a   Cirak, S ^b   Marklova, E ^c   Michelakakis, H ^d   Korsch, E ^e   Adamowicz, M ^f   Koletzko, B ^g   van Spronsen, F J ^h   Niezen Koning, K E ^h   Matthijs, G ⁱ   Gardeitchik, T ^a   Kouwenberg, D ^a   Lim, B Chan ^j   Zeevaert, R ⁱ   Wevers, R A ^a   Lefeber, D J ^a   Morava, E ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c CHARLES UNIVERSITY   (Czech Republic)

^d Institute of Child Health   (Greece)

^e UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^f CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^g LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^h UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

ⁱ UNIVERSITY OF LEUVEN   (Belgium)

^j Seoul National University Hospital   (South Korea)

more..

Author keywords

CDG type 2; CDG IIx; Copper metabolism; Golgi system; Hearing loss; Seizure; TIEF

Indexed keywords

TRANSFERRIN;

ADOLESCENT; ARTICLE; BONE DYSPLASIA; BRAIN MALFORMATION; CHEMICAL ANALYSIS; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2; CONGESTIVE CARDIOMYOPATHY; COPPER METABOLISM; ENDOCRINE DISEASE; EPILEPSY; FEMALE; GENETIC ANALYSIS; HEARING LOSS; HEART ARREST; HUMAN; HUMAN TISSUE; INFANT; IRON METABOLISM; MALE; NEWBORN; PRIORITY JOURNAL; WRINKLE;

ADOLESCENT; CONGENITAL DISORDERS OF GLYCOSYLATION; FEMALE; GLYCOSYLATION; HUMANS; INFANT; INFANT, NEWBORN; ISOELECTRIC FOCUSING; MALE; TRANSFERRIN;

EID: 79954618927     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2011.02.011     Document Type: Article

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