Congenital disorder of glycosylation type Ix: Review of clinical spectrum and diagnostic steps

Journal of Inherited Metabolic Disease

Volumn 31, Issue 3, 2008, Pages 450-456

  Morava, E ^a   Wosik, H ^b   Karteszi J ^c   Guillard, M ^a   Adamowicz, M ^d   Sykut Cegielska, J ^d   Hadzsiev, K ^c   Wevers, R A ^a   Lefeber, D J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MEDICAL UNIVERSITY OF LODZ   (Poland)

^c UNIVERSITY OF PÉCS   (Hungary)

^d UNIVERSITY OF WARSAW   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE;

ARTHROGRYPOSIS; ARTICLE; ASCITES; CATARACT; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1X; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DEVELOPMENTAL DISORDER; DIAGNOSTIC PROCEDURE; DISEASE CLASSIFICATION; DISEASE SEVERITY; EYE DISEASE; GENETIC DISORDER; GLAUCOMA; HEPATOMEGALY; HUMAN; MEDICAL RECORD REVIEW; MICROCEPHALY; MUSCLE HYPOTONIA; NEPHROTIC SYNDROME; NEUROLOGIC EXAMINATION; OPTIC NERVE ATROPHY; PROGNOSIS; SEIZURE;

ABNORMALITIES, MULTIPLE; ATROPHY; BLOOD COAGULATION DISORDERS; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CATARACT; GLYCOSYLATION; HUMANS; OPTIC NERVE;

EID: 45849130527     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0822-0     Document Type: Article

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