(Q28118156)

4 January 2017

title

Mutations in antiquitin in individuals with pyridoxine-dependent seizures (English)

1 reference

4 January 2017

8

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Matthias R Baumgartner

object named as

Matthias Baumgartner

6

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author name string

Philippa B. Mills

1

1 reference

4 January 2017

Eduard Struys

2

1 reference

4 January 2017

Cornelis Jakobs

3

1 reference

4 January 2017

Barbara Plecko

4

1 reference

4 January 2017

Peter Baxter

5

1 reference

4 January 2017

Michèl A. A. P. Willemsen

7

1 reference

4 January 2017

Uta Tacke

9

1 reference

4 January 2017

Birgit Uhlenberg

10

1 reference

4 January 2017

Bernhard Weschke

11

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4 January 2017

Peter T. Clayton

12

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4 January 2017

language of work or name

English

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publication date

1 March 2006

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4 January 2017

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4 January 2017

volume

12

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4 January 2017

issue

3

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4 January 2017

page(s)

307–309

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A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31

4 January 2017

cites work

1 reference

Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II

21 January 2018

1 reference

Homology between a human protein and a protein of the green garden pea.

21 January 2018

1 reference

First purification of the antiquitin protein and demonstration of its enzymatic activity.

21 January 2018

1 reference

Relationships within the aldehyde dehydrogenase extended family

21 January 2018

1 reference

Differences in the roles of conserved glutamic acid residues in the active site of human class 3 and class 2 aldehyde dehydrogenases

21 January 2018

1 reference

A new function for nonsense-mediated mRNA-decay factors

21 January 2018

1 reference

Role of the C-terminal tail on the quaternary structure of aldehyde dehydrogenases

21 January 2018

1 reference

Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy

21 January 2018

1 reference

Pyridoxine dependent epilepsy: a suggestive electroclinical pattern

21 January 2018

1 reference

The pcd gene encoding piperideine-6-carboxylate dehydrogenase involved in biosynthesis of alpha-aminoadipic acid is located in the cephamycin cluster of Streptomyces clavuligerus.

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NM1366

1 reference

Consolidated OpenCitations Corpus – April 2017

release_zyklygfhlvcvlok2eedj7uci3i

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zyklygfhlvcvlok2eedj7uci3i

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017