Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling

American Journal of Medical Genetics

Volumn 101, Issue 1, 2001, Pages 46-49

  Drouin Garraud, Valérie ^a   Belgrand, Mathilde ^a   Grünewald, Stéphanie ^b   Seta, Nathalie ^c   Dacher, Jean Nicolas ^a   Hénocq, Alain ^a   Matthijs, Gert ^b   Cormier Daire, Valérie ^d   Frébourg, Thierry ^a   Saugier Veber, Pascale ^a  

^a HÔPITAL CHARLES NICOLLE   (France)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c BICHAT HOSPITAL   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Autosomal recessive; Carbohydrate deficient glycoprotein syndrome type Ia; Cerebellar atrophy; Congenital disorders of glycosylation; Mental retardation; Mutation; Phosphomannomutase; PMM2

Indexed keywords

PHOSPHOMANNOMUTASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DISEASE; CASE REPORT; CEREBELLUM ATROPHY; CHILD; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; GENE MUTATION; GENETIC COUNSELING; HUMAN; INBORN ERROR OF METABOLISM; MALE; MENTAL DEFICIENCY; NEUROLOGIC DISEASE; ORGAN DISTRIBUTION; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; SCHOOL CHILD;

AGE OF ONSET; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CEREBELLUM; CHILD; CISTERNA MAGNA; FEMALE; FIBROBLASTS; FOURTH VENTRICLE; GENES, RECESSIVE; GENETIC COUNSELING; GLYCOSYLATION; HUMANS; ISOELECTRIC FOCUSING; MALE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); SPINOCEREBELLAR DEGENERATIONS;

EID: 0035370604     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1298     Document Type: Article

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