Your browser doesn't support javascript.
loading
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
Castiglioni, Claudia; Verrigni, Daniela; Okuma, Cecilia; Diaz, Alejandra; Alvarez, Karin; Rizza, Teresa; Carrozzo, Rosalba; Bertini, Enrico; Miranda, Marcelo.
Affiliation
  • Castiglioni C; Unit of Neurology, Dept. of Pediatrics and Dept. of Neurology, Clínica las Condes, Santiago, Chile. Electronic address: ccastiglioni@clc.cl.
  • Verrigni D; Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Hospital IRCCS, Rome, Italy.
  • Okuma C; Dept. of Radiology, Clínica las Condes, Santiago, Chile.
  • Diaz A; National Institute of Rehabilitation, INRPAC, Santiago, Chile.
  • Alvarez K; Laboratory of Molecular Genetics and Oncology, Clínica las Condes, Santiago, Chile.
  • Rizza T; Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Hospital IRCCS, Rome, Italy.
  • Carrozzo R; Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Hospital IRCCS, Rome, Italy.
  • Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Hospital IRCCS, Rome, Italy.
  • Miranda M; Unit of Neurology, Dept. of Pediatrics and Dept. of Neurology, Clínica las Condes, Santiago, Chile.
Eur J Paediatr Neurol ; 19(5): 497-503, 2015 Sep.
Article in En | MEDLINE | ID: mdl-26008863
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Thiamine / Pyruvate Dehydrogenase Complex Deficiency Disease / Dietary Supplements / Dystonic Disorders Type of study: Diagnostic_studies Limits: Adult / Female / Humans Language: En Journal: Eur J Paediatr Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2015 Document type: Article
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Thiamine / Pyruvate Dehydrogenase Complex Deficiency Disease / Dietary Supplements / Dystonic Disorders Type of study: Diagnostic_studies Limits: Adult / Female / Humans Language: En Journal: Eur J Paediatr Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2015 Document type: Article