(Q59697060)

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3 January 2020

title

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

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3 January 2020

1 reference

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congenital disorder of glycosylation

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congenital disorder of glycosylation type Ia

inferred from title

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4

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3 January 2020

author name string

S Vermeer

1

1 reference

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3 January 2020

H P H Kremer

2

1 reference

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3 January 2020

Q H Leijten

3

1 reference

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3 January 2020

G Matthijs

5

1 reference

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3 January 2020

R A Wevers

6

1 reference

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3 January 2020

N A V M Knoers

7

1 reference

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3 January 2020

E Morava

8

1 reference

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3 January 2020

D J Lefeber

9

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3 January 2020

publication date

15 August 2007

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3 January 2020

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3 January 2020

volume

254

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3 January 2020

issue

10

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3 January 2020

page(s)

1356-1358

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Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia

3 January 2020

cites work

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12 December 2020

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

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12 December 2020

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

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12 December 2020

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

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12 December 2020

[CDG (congenital disorders of glycosylation). Differential hereditary ataxia in adulthood diagnosis]

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome: beyond the screen

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12 December 2020

Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations

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12 December 2020

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

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12 December 2020

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A

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12 December 2020

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

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12 December 2020

Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern

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12 December 2020

10.1007/S00415-007-0546-3

Identifiers

DOI

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3 January 2020

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