(Q34852780)

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Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology.

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18854520%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18854520%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Magdalena Kaczorowska

1

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15 January 2020

2

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15 January 2020

Sergiusz Jóźwiak

8

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15 January 2020

Marek Kaciński

4

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Marek Kacinski

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15 January 2020

author name string

Cornelis Jakobs

3

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15 January 2020

Slawomir Kroczka

5

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15 January 2020

Gajja S Salomons

6

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15 January 2020

Eduard A Struys

7

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15 January 2020

publication date

14 October 2008

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15 January 2020

Journal of Child Neurology

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15 January 2020

23

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15 January 2020

12

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15 January 2020

1455-1459

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15 January 2020

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073808318543

21 January 2018

Pyridoxine-dependent seizures: a case report and a critical review of the literature

1 reference

https://api.crossref.org/works/10.1177%2F0883073808318543

21 January 2018

Treatment of infantile spasms with high-dosage vitamin B6.

1 reference

https://api.crossref.org/works/10.1177%2F0883073808318543

21 January 2018

Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK.

1 reference

https://api.crossref.org/works/10.1177%2F0883073808318543

21 January 2018

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

1 reference

https://api.crossref.org/works/10.1177%2F0883073808318543

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073808318543

21 January 2018

Pyridoxine-dependent and pyridoxine-responsive seizures

1 reference

https://api.crossref.org/works/10.1177%2F0883073808318543

21 January 2018

Long-term follow-up of an individual with vitamin B6-dependent seizures.

1 reference

https://api.crossref.org/works/10.1177%2F0883073808318543

21 January 2018

Global brain dysfunction in an infant with pyridoxine dependency: evaluation with EEG, evoked potentials, MRI, and PET.

1 reference

https://api.crossref.org/works/10.1177%2F0883073808318543

21 January 2018

Longitudinal MRI findings in pyridoxine-dependent seizures

1 reference

https://api.crossref.org/works/10.1177%2F0883073808318543

21 January 2018

Pharmacorefractory status epilepticus due to low vitamin B6 levels during pregnancy

1 reference

https://api.crossref.org/works/10.1177%2F0883073808318543

21 January 2018

Pyridoxine-dependent seizures responding to extremely low-dose pyridoxine

1 reference

https://api.crossref.org/works/10.1177%2F0883073808318543

21 January 2018

Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime.

1 reference

https://api.crossref.org/works/10.1177%2F0883073808318543

21 January 2018

Neuronal development in vitamin B6 deficiency

1 reference

https://api.crossref.org/works/10.1177%2F0883073808318543

21 January 2018

An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).

1 reference

https://api.crossref.org/works/10.1177%2F0883073808318543

21 January 2018

Identifiers

10.1177/0883073808318543

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18854520%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18854520%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

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