(Q80460606)

English

Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency

scientific article published on 08 June 2007

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560822%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560822%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

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based on heuristic

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based on heuristic

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author name string

Eduard A Struys

1

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560822%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

C Jakobs

2

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560822%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

publication date

8 June 2007

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31 December 2019

Molecular Genetics and Metabolism

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31 December 2019

91

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31 December 2019

4

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31 December 2019

405

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31 December 2019

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.016

7 January 2021

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/10.1016%2FJ.YMGME.2007.04.016

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.016

7 January 2021

Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.016

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.016

7 January 2021

Identifiers

10.1016/J.YMGME.2007.04.016

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560822%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560822%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

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