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Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency

  • Published:2014 Issue: Volume:2 Page:37-39
  • ISSN:2213-3232
  • Container-title:Epilepsy & Behavior Case Reports
  • language:en
  • Short-container-title:Epilepsy & Behavior Case Reports

Author:

Furujo Mahoko,Kinoshita Masako,Ichiba Yozo,Romstad Anne,Shintaku Haruo,Kubo Toshihide

Funder

Health and Labour Sciences Research Grants for Research on Rare and Intractable Diseases

Publisher

Elsevier BV

Subject

Behavioral Neuroscience,Clinical Neurology,Neurology

Reference9 articles.

1. Disorders of tetrahydrobiopterin metabolism and their treatment;Shintaku;Curr Drug Metab,2002

2. Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan;Shintaku;Brain Dev,2013

3. An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia;Opladen;J Inherit Metab Dis,2012

4. Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency;Jäggi;Mol Genet Metab,2008

5. Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency;Furujo;Epilepsia,2013

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