Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation

European Journal of Pediatrics

Volumn 162, Issue 10, 2003, Pages 710-713

  Neumann, Luitgard M ^a   Von Moers, Arpad ^a   Kunze, Jürgen ^a   Blankenstein, Oliver ^a   Marquardt, Thorsten ^b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Carbohydrate deficient glycoprotein syndrome; Cerebellar hypoplasia; Congenital disorders of glycosylation; Macrosomia neuropathy

Indexed keywords

PHOSPHOMANNOMUTASE;

ARTICLE; ATAXIA; CASE REPORT; CEREBELLUM HYPOPLASIA; CHILD; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; DISORDERS OF CARBOHYDRATE METABOLISM; DYSTONIA; ENZYME ACTIVITY; FAILURE TO THRIVE; FIBROBLAST; GENE MUTATION; HOMOZYGOSITY; HUMAN; ISOELECTRIC FOCUSING; LEUKOCYTE; MACROSOMIA; MALE; MUSCLE HYPOTONIA; PHENOTYPE; PRIORITY JOURNAL; TRANSFERRIN BLOOD LEVEL;

BODY MASS INDEX; BRAIN; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; DNA MUTATIONAL ANALYSIS; GLYCOSYLATION; HEAD; HOMOZYGOTE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES);

EID: 0141993576     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-003-1278-8     Document Type: Article

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