(Q50595927)

16 March 2018

title

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach. (English)

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16 March 2018

author name string

K Dörre

1

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16 March 2018

M Olczak

2

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16 March 2018

Y Wada

3

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16 March 2018

P Sosicka

4

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16 March 2018

M Grüneberg

5

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16 March 2018

J Reunert

6

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16 March 2018

G Kurlemann

7

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16 March 2018

B Fiedler

8

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16 March 2018

S Biskup

9

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16 March 2018

K Hörtnagel

10

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16 March 2018

S Rust

11

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16 March 2018

T Marquardt

12

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16 March 2018

publication date

17 March 2015

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16 March 2018

Journal of Inherited Metabolic Disease

published in

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16 March 2018

volume

38

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16 March 2018

issue

5

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16 March 2018

page(s)

931-940

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16 March 2018

https://scigraph.springernature.com/pub.10.1007/s10545-015-9828-6

exact match

0 references

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21 January 2018

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21 January 2018

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De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy

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The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter

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Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency

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12 December 2020

10.1007/S10545-015-9828-6

Identifiers

DOI

1 reference

16 March 2018

1 reference

16 March 2018