Literature DB >> 23683770

Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations.

Saadet Mercimek-Mahmutoglu, Elizabeth J Donner, Komudi Siriwardena.   

Abstract

Entities:  

Keywords:  ALDH7A1; Alpha-aminoadipic acid semialdehyde; CSF; CSF pipecolic acid; CSF-PA; P-PA; P6C; PA; PDE; PDE caused by ALDH7A1 genetic defect; PDE-ALDH7A1; Pipecolic acid; Pyridoxine dependent epilepsy; U-PA; alpha-aminoadipic acid semialdehyde; alpha-aminoadipic semialdehyde dehydrogenase; cerebral spinal fluid; pipecolic acid; piperidine 6-carboxylic acid; plasma pipecolic acid; pyridoxine dependent epilepsy; urine pipecolic acid; α-AASA; α-AASAD

Mesh：

Substances：

Year:  2013        PMID： 23683770     DOI： 10.1016/j.ymgme.2013.04.018

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


× No keyword cloud information.
  8 in total

1.  Structural and biochemical consequences of pyridoxine-dependent epilepsy mutations that target the aldehyde binding site of aldehyde dehydrogenase ALDH7A1.

Authors:  Adrian R Laciak; David A Korasick; Jesse W Wyatt; Kent S Gates; John J Tanner
Journal:  FEBS J       Date:  2019-07-25       Impact factor: 5.542

2.  Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.

Authors:  Clara D M van Karnebeek; Sylvia Stockler-Ipsiroglu; Sravan Jaggumantri; Birgit Assmann; Peter Baxter; Daniela Buhas; Levinus A Bok; Barbara Cheng; Curtis R Coughlin; Anibh M Das; Alette Giezen; Wahla Al-Hertani; Gloria Ho; Uta Meyer; Philippa Mills; Barbara Plecko; Eduard Struys; Keiko Ueda; Monique Albersen; Nanda Verhoeven; Sidney M Gospe; Renata C Gallagher; Johan K L Van Hove; Hans Hartmann
Journal:  JIMD Rep       Date:  2014-04-19

3.  Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect.

Authors:  Saadet Mercimek-Mahmutoglu; Dawn Corderio; Laura Nagy; Carly Mutch; Melissa Carter; Eduard Struys; Lianna Kyriakopoulou
Journal:  Mol Genet Metab Rep       Date:  2014-04-01

4.  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

5.  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

6.  Vitamin B6 in plasma and cerebrospinal fluid of children.

Authors:  Monique Albersen; Marjolein Bosma; Judith J M Jans; Floris C Hofstede; Peter M van Hasselt; Monique G M de Sain-van der Velden; Gepke Visser; Nanda M Verhoeven-Duif
Journal:  PLoS One       Date:  2015-03-11       Impact factor: 3.240

7.  Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy.

Authors:  Jiao Xue; Junjuan Wang; Pan Gong; Minhang Wu; Wenshuang Yang; Shiju Jiang; Ye Wu; Yuwu Jiang; Yuehua Zhang; Tatiana Yuzyuk; Hong Li; Zhixian Yang
Journal:  Sci Rep       Date:  2019-08-06       Impact factor: 4.379

Review 8.  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
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.