Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review-Reference-Cited by-同舟云学术

Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review

Published:2015-09 Issue:5 Volume:19 Page:497-503
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Castiglioni Claudia,Verrigni Daniela,Okuma Cecilia,Diaz Alejandra,Alvarez Karin,Rizza Teresa,Carrozzo Rosalba,Bertini Enrico,Miranda Marcelo

Funder

Clínica Las Condes Chile

Italian Ministry of Health

Office of International Activities of the Bambino Gesu’ Children's Research Hospital

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference20 articles.

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2. Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis;Barnerias;Dev Med Child Neurol,2010

3. Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase complex;Strassburg;Neuropediatrics,2006

4. Pyruvate dehydrogenase deficiency presenting as dystonia in childhood;Head;Dev Med Child Neurol,2004

5. Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamideacetyltransferase (E2) deficiency;Head;Ann Neurol,2005

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