Literature DB >> 16178031

Pipecolic acid: a diagnostic marker in pyridoxine-dependent epilepsy.

Michèl A A P Willemsen, Annelies M C Mavinkurve-Groothuis, Ron A Wevers, Jan J Rotteveel, Cornelis Jakobs.   

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Year:  2005        PMID： 16178031     DOI： 10.1002/ana.20610

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  4 in total

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

Authors:  Levinus A Bok; Eduard Struys; Michel A A P Willemsen; Jasper V Been; Cornelis Jakobs
Journal:  Arch Dis Child       Date:  2006-11-06       Impact factor: 3.791

2.  The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.

Authors:  Eduard A Struys; Levinus A Bok; Dina Emal; Saskia Houterman; Michel A Willemsen; Cornelis Jakobs
Journal:  J Inherit Metab Dis       Date:  2012-01-17       Impact factor: 4.982

3.  Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Authors:  Irene De Biase; Silvia Tortorelli; Lisa Kratz; Steven J Steinberg; Kristina Cusmano-Ozog; Nancy Braverman
Journal:  Genet Med       Date:  2019-12-11       Impact factor: 8.822

Review 4.  Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures.

Authors:  Konrad Kaminiów; Magdalena Pająk; Renata Pająk; Justyna Paprocka
Journal:  Brain Sci       Date:  2021-12-31
  4 in total

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