Literature DB >> 17560822

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

Eduard A Struys, C Jakobs.   

Abstract

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Year:  2007        PMID： 17560822     DOI： 10.1016/j.ymgme.2007.04.016

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  7 in total

1.  root uv-b sensitive mutants are suppressed by specific mutations in ASPARTATE AMINOTRANSFERASE2 and by exogenous vitamin B6.

Authors:  Colin D Leasure; Hong-Yun Tong; Xue-Wen Hou; Amy Shelton; Mike Minton; Raymond Esquerra; Sanja Roje; Hanjo Hellmann; Zheng-Hui He
Journal:  Mol Plant       Date:  2011-04-21       Impact factor: 13.164

2.  Human pyrroline-5-carboxylate reductase (PYCR1) acts on Δ(1)-piperideine-6-carboxylate generating L-pipecolic acid.

Authors:  Eduard A Struys; Erwin E W Jansen; Gajja S Salomons
Journal:  J Inherit Metab Dis       Date:  2014-01-16       Impact factor: 4.982

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

Authors:  Gregory J Basura; Shawn P Hagland; Anna M Wiltse; Sidney M Gospe
Journal:  Eur J Pediatr       Date:  2008-09-02       Impact factor: 3.183

4.  Diagnostic approach of epilepsy in childhood and adolescence.

Authors:  Catrinel Iliescu; Dana Craiu
Journal:  Maedica (Buchar)       Date:  2013-06

5.  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

6.  A case for newborn screening for pyridoxine-dependent epilepsy.

Authors:  Curtis R Coughlin; Laura A Tseng; Clara D M van Karnebeek
Journal:  Cold Spring Harb Mol Case Stud       Date:  2022-03-24

Review 7.  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
  7 in total

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