(Q34302609)

1 August 2017

title

Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials (English)

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pyridoxine-dependent epilepsy

1 August 2017

main subject

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Graham Sinclair

15

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Mary B Connolly

object named as

Mary Connolly

Saadet Mercimek-Mahmutoglu

6

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12

object named as

Saadet Mercimek-Mahmutoglu

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1 August 2017

author name string

Clara D M van Karnebeek

1

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Hans Hartmann

2

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Sravan Jaggumantri

3

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1 August 2017

Levinus A Bok

4

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Barb Cheng

5

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Curtis R Coughlin

7

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Anibh M Das

8

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Sidney M Gospe

9

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Cornelis Jakobs

10

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Johanna H van der Lee

11

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Uta Meyer

13

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Eduard Struys

14

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Johan Van Hove

16

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Jean-Paul Collet

17

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Barbara R Plecko

18

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Sylvia Stockler

19

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1 August 2017

publication date

10 September 2012

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Molecular Genetics and Metabolism

1 August 2017

published in

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1 August 2017

volume

107

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1 August 2017

issue

3

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1 August 2017

page(s)

335-344

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Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

1 August 2017

cites work

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.006

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.006

Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.006

Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.006

Long-term outcome in pyridoxine-dependent epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.006

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.006

Diagnosis and management of glutaric aciduria type I--revised recommendations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.006

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.2012.09.006

Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.006

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.006

Folinic acid responsive seizures: a new syndrome?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.006

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.2012.09.006

Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.006

Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.006

Cultural aspects in the management of inborn errors of metabolism.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.006

Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.006

10.1016/J.YMGME.2012.09.006

7 January 2021

Identifiers

DOI

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1 August 2017

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