(Q41934346)

14 October 2017

title

Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease (English)

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congenital disorder of glycosylation

14 October 2017

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A E Würde

1

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14 October 2017

J Reunert

2

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14 October 2017

S Rust

3

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14 October 2017

C Hertzberg

4

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14 October 2017

S Haverkämper

5

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14 October 2017

G Nürnberg

6

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14 October 2017

P Nürnberg

7

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14 October 2017

L Lehle

8

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14 October 2017

R Rossi

9

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14 October 2017

T Marquardt

10

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14 October 2017

language of work or name

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9 January 2012

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Molecular Genetics and Metabolism

14 October 2017

published in

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14 October 2017

volume

105

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14 October 2017

issue

4

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14 October 2017

page(s)

634-641

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Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

14 October 2017

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Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij

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7 January 2021

Identifiers

DOI

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14 October 2017

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