Congenital disorder of glycosylation type Ia: Benign clinical course in a new genetic variant

Child's Nervous System

Volumn 18, Issue 1-2, 2002, Pages 77-80

  Mader, Irina ^a   Döbler Neumann, Marion ^a   Küker, Wilhelm ^a   Stibler, Helena ^b   Krägeloh Mann, Ingeborg ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

CDG; Cerebellar atrophy; MRI; Mutation

Indexed keywords

GLYCAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBELLUM ATROPHY; CHROMOSOME 16P; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE SEVERITY; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MUTAGENESIS; NEUROIMAGING; PRIORITY JOURNAL; SCHOOL CHILD; BRAIN; DISORDERS OF CARBOHYDRATE METABOLISM; GENETICS; GLYCOSYLATION; INFANT; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PATHOPHYSIOLOGY; RADIOGRAPHY;

BRAIN; CARBOHYDRATE METABOLISM, INBORN ERRORS; FEMALE; GLYCOSYLATION; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0036480938     PISSN: 02567040     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003810100493     Document Type: Article

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