Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening

Journal of Neurology

Volumn 254, Issue 10, 2007, Pages 1356-1358

  Vermeer, S ^a   Kremer, H P H ^a   Leijten, Q H ^b   Scheffer, H ^a   Matthijs, G ^c   Wevers, R A ^a   Knoers, N A V M ^a   Morava, E ^a   Lefeber, D J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RIJNSTATE HOSPITAL   (Netherlands)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

CDG Ia; Cerebellar ataxia; Phosphomannomutase; Transferrin isofocusing

Indexed keywords

PHOSPHOMANNOMUTASE; TRANSFERRIN;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM; CEREBELLAR ATAXIA; CEREBELLUM; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; FEMALE; FIBROBLAST; GENE; GENE MUTATION; HEMISPHERE; HUMAN; HYPOPLASIA; INFANT; LEUKOCYTE; MALE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PHENOTYPE; PMM2 GENE; PRIORITY JOURNAL; TRANSFERRIN BLOOD LEVEL;

ADOLESCENT; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CEREBELLAR ATAXIA; CHILD; FEMALE; FIBROBLASTS; HUMANS; ISOELECTRIC FOCUSING; MALE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); TRANSFERRIN;

EID: 36148970434     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-007-0546-3     Document Type: Article

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