Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis (Q34618996)

3 August 2017

Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis (English)

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3 August 2017

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6

Katsuya Yamamoto

1 reference

3 August 2017

Junko Kanno

1

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3 August 2017

Shigeo Kure

2

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3 August 2017

Ayumi Narisawa

3

1 reference

3 August 2017

Fumiaki Kamada

4

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3 August 2017

Masaru Takayanagi

5

1 reference

3 August 2017

Hisao Hoshino

7

1 reference

3 August 2017

Tomohide Goto

8

1 reference

3 August 2017

Takao Takahashi

9

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3 August 2017

Kazuhiro Haginoya

10

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3 August 2017

Shigeru Tsuchiya

11

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3 August 2017

Fritz A M Baumeister

12

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3 August 2017

Yuki Hasegawa

13

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3 August 2017

Yoko Aoki

14

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3 August 2017

Seiji Yamaguchi

15

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3 August 2017

Yoichi Matsubara

16

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3 August 2017

language of work or name

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11 April 2007

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Molecular Genetics and Metabolism

3 August 2017

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3 August 2017

91

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3 August 2017

384-389

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3 August 2017

4

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Pyridoxine-dependent seizures: findings from recent studies pose new questions

3 August 2017

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.010

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.010

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.010

A subtype of pyridoxine-dependent epilepsy with normal CSF glutamate concentration

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.010

CSF glutamate/GABA concentrations in pyridoxine-dependent seizures: etiology of pyridoxine-dependent seizures and the mechanisms of pyridoxine action in seizure control

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.010

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.010

Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.010

Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.010

Enantiomeric analysis of D- and L-pipecolic acid in plasma using a chiral capillary gas chromatography column and mass fragmentography

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.010

Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.010

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.010

Alu elements and the human genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.010

Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.010

Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.010

Depletion of cerebral D-serine in non-ketotic hyperglycinemia: possible involvement of glycine cleavage system in control of endogenous D-serine.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.010

Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.010

10.1016/J.YMGME.2007.02.010

7 January 2021

Identifiers

DOI

1 reference

3 August 2017

1 reference