Screening for congenital disorders of glycosylation in the first weeks of life

Journal of Inherited Metabolic Disease

Volumn 36, Issue 5, 2013, Pages 887-892

  Thiel, Christian ^a   Meßner Schmitt, Dorothea ^a   Hoffmann, Georg F ^a   Körner, Christian ^a  

^a Center for Metabolic Diseases Heidelberg   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTITRYPSIN; TRANSFERRIN;

ARTICLE; CARDIOMYOPATHY; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL MALFORMATION; CONTROLLED STUDY; ETHNICITY; EYE MALFORMATION; FAILURE TO THRIVE; FEMALE; GLYCOSYLATION; HEPATOSPLENOMEGALY; HUMAN; HYPERTRANSAMINASEMIA; INFANT; ISOELECTRIC FOCUSING; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; ONSET AGE; PRACTICE GUIDELINE; PROTEIN BLOOD LEVEL; SCREENING TEST; SEIZURE; SEX DIFFERENCE;

CONGENITAL DISORDERS OF GLYCOSYLATION; FEMALE; GLYCOSYLATION; HUMANS; INFANT; MALE; OLIGOSACCHARIDES; TRANSFERRIN;

EID: 84884353701     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9531-9     Document Type: Article

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