Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.
about
Serum glycopattern and Maackia amurensis lectin-II binding glycoproteins in autism spectrum disorderThe congenital disorders of glycosylation: a multifaceted group of syndromes.29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotypeThe normal phenotype of Pmm1-deficient mice suggests that Pmm1 is not essential for normal mouse development.A developmental and genetic classification for midbrain-hindbrain malformations.Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.Increased biosynthesis of glycosphingolipids in congenital disorder of glycosylation Ia (CDG-Ia) fibroblasts.Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult.Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).Congenital disorder of glycosylation type Ia: a non-progressive encephalopathy associated with multisystemic involvement.
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P2860
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.
description
2001 nî lūn-bûn
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2001年の論文
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2001年学术文章
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name
Neurological presentation of a ...... gnosis and genetic counseling.
@en
Neurological presentation of a ...... gnosis and genetic counseling.
@nl
type
label
Neurological presentation of a ...... gnosis and genetic counseling.
@en
Neurological presentation of a ...... gnosis and genetic counseling.
@nl
prefLabel
Neurological presentation of a ...... gnosis and genetic counseling.
@en
Neurological presentation of a ...... gnosis and genetic counseling.
@nl
P2093
P2860
P356
P1476
Neurological presentation of a ...... gnosis and genetic counseling.
@en
P2093
Belgrand M
Cormier-Daire V
Drouin-Garraud V
Frébourg T
Grünewald S
Matthijs G
Saugier-Veber P
P2860
P356
10.1002/AJMG.1298
P577
2001-06-01T00:00:00Z