Neurophysiological findings in a case of carbohydrate-deficient glycoprotein (CDG) syndrome type I with phosphomannomutase deficiency (Q73569811)

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5 November 2019

title

Neurophysiological findings in a case of carbohydrate-deficient glycoprotein (CDG) syndrome type I with phosphomannomutase deficiency (English)

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5 November 2019

author name string

E Veneselli

1

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5 November 2019

R Biancheri

2

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5 November 2019

M Di Rocco

3

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5 November 2019

S Tortorelli

4

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5 November 2019

publication date

1 January 1998

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European Journal of Paediatric Neurology

5 November 2019

published in

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5 November 2019

volume

2

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5 November 2019

issue

5

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5 November 2019

page(s)

239-244

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Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2898%2980037-8

7 January 2021

The carbohydrate-deficient glycoprotein syndromes: an overview

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2898%2980037-8

7 January 2021

Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2898%2980037-8

7 January 2021

[Carbohydrate-deficient glycoprotein syndrome]

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2898%2980037-8

7 January 2021

A new variant of the carbohydrate deficient glycoproteins syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2898%2980037-8

7 January 2021

Carbohydrate-deficient glycoprotein (CDG) syndrome--a new variant, type III.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2898%2980037-8

7 January 2021

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2898%2980037-8

7 January 2021

Carbohydrate-deficient glycoprotein syndrome--a fourth subtype

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2898%2980037-8

7 January 2021

Carbohydrate-deficient glycoconjugate (CDG) syndromes: a new chapter of neuropaediatrics

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2898%2980037-8

7 January 2021

Diagnosis of the carbohydrate-deficient glycoprotein syndrome by analysis of transferrin in filter paper blood spots

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2898%2980037-8

7 January 2021

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2898%2980037-8

7 January 2021

Abnormal short-latency somatosensory evoked potentials in two patients with carbohydrate-deficient glycoprotein syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2898%2980037-8

7 January 2021

Early manifestations of the carbohydrate-deficient glycoprotein syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2898%2980037-8

7 January 2021

Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate‐deficient glycoprotein syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2898%2980037-8

7 January 2021

Full-field electroretinograms in patients with the carbohydrate-deficient glycoprotein syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2898%2980037-8

7 January 2021

10.1016/S1090-3798(98)80037-8

Identifiers

DOI

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5 November 2019

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