(Q24674213)

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Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels

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title

Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels (English)

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main subject

obstetrics and gynaecology

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author name string

Levinus A Bok

series ordinal

1

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Eduard Struys

series ordinal

2

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Michel A A P Willemsen

series ordinal

3

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Jasper V Been

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4

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Cornelis Jakobs

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5

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language of work or name

English

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publication date

August 2007

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published in

Archives of Disease in Childhood

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volume

92

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issue

8

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page(s)

687-9

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cites work

Epidemiology of pyridoxine dependent seizures in the Netherlands

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stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2083882

retrieved

7 April 2017

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2083882

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2083882

retrieved

28 September 2017

Pyridoxine-dependent seizures: a clinical and biochemical conundrum

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2083882

retrieved

28 September 2017

Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2083882

retrieved

28 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2083882

retrieved

28 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2083882

retrieved

30 May 2018

Pipecolic acid: a diagnostic marker in pyridoxine-dependent epilepsy

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2083882

retrieved

28 November 2018

Identifiers

DOI

10.1136/ADC.2006.103192

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ResearchGate publication ID

6709461

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(Q24674213)

Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels

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