Literature DB >> 7564240

Folinic acid responsive seizures: a new syndrome?

K Hyland1, N R Buist, B R Powell, G F Hoffman, D Rating, J McGrath, I N Acworth.   

Abstract

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Year:  1995        PMID： 7564240     DOI： 10.1007/BF00711760

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

1.  Measurement of total plasma and cerebrospinal fluid homocysteine by fluorescence following high-performance liquid chromatography and precolumn derivatization with o-phthaldialdehyde.

Authors:  K Hyland; T Bottiglieri
Journal:  J Chromatogr       Date:  1992-08-07

2.  n-Electrode three-dimensional liquid chromatography with electrochemical detection for determination of neurotransmitters.

Authors:  W R Matson; P Langlais; L Volicer; P H Gamache; E Bird; K A Mark
Journal:  Clin Chem       Date:  1984-09       Impact factor: 8.327

3.  Electrochemical activity of o-phthalaldehyde-mercaptoethanol derivatives of amino acids. Application to high-performance liquid chromatographic determination of amino acids in plasma and other biological materials.

Authors:  M H Joseph; P Davies
Journal:  J Chromatogr       Date:  1983-10-14

4.  Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology.

Authors:  K Hyland; P T Clayton
Journal:  Clin Chem       Date:  1992-12       Impact factor: 8.327
  4 in total
  8 in total

Review 1.  Inborn Errors of Metabolism in Pediatric Epilepsy.

Authors:  Anna S Cosnahan; Christopher T Campbell
Journal:  J Pediatr Pharmacol Ther       Date:  2019 Sep-Oct

Review 2.  New treatment paradigms in neonatal metabolic epilepsies.

Authors:  P L Pearl
Journal:  J Inherit Metab Dis       Date:  2009-02-24       Impact factor: 4.982

Review 3.  Lysine metabolism in mammalian brain: an update on the importance of recent discoveries.

Authors:  André Hallen; Joanne F Jamie; Arthur J L Cooper
Journal:  Amino Acids       Date:  2013-09-17       Impact factor: 3.520

4.  Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.

Authors:  Udo Fh Engelke; Rianne E van Outersterp; Jona Merx; Fred Amg van Geenen; Arno van Rooij; Giel Berden; Marleen Cdg Huigen; Leo Aj Kluijtmans; Tessa Ma Peters; Hilal H Al-Shekaili; Blair R Leavitt; Erik de Vrieze; Sanne Broekman; Erwin van Wijk; Laura A Tseng; Purva Kulkarni; Floris Pjt Rutjes; Jasmin Mecinović; Eduard A Struys; Laura A Jansen; Sidney M Gospe; Saadet Mercimek-Andrews; Keith Hyland; Michèl Aap Willemsen; Levinus A Bok; Clara Dm van Karnebeek; Ron A Wevers; Thomas J Boltje; Jos Oomens; Jonathan Martens; Karlien Lm Coene
Journal:  J Clin Invest       Date:  2021-08-02       Impact factor: 14.808

5.  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

Review 6.  Impact of predictive, preventive and precision medicine strategies in epilepsy.

Authors:  Rima Nabbout; Mathieu Kuchenbuch
Journal:  Nat Rev Neurol       Date:  2020-10-19       Impact factor: 42.937

Review 7.  Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches.

Authors:  Suvasini Sharma; Asuri N Prasad
Journal:  Int J Mol Sci       Date:  2017-07-02       Impact factor: 5.923

8.  Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review.

Authors:  Aliya Frederick; Kimberly Sherer; Linda Nguyen; Shawn Ali; Anupam Garg; Richard Haas; Michelle Sahagian; Jonathan Bui
Journal:  Ann Clin Transl Neurol       Date:  2020-11-29       Impact factor: 4.511
  8 in total

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