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Page 1
Propionic acidemia and optic neuropathy: a report of two cases.
Arias C, Raimann E, Peredo P, Cabello JF, Castro G, Valiente A, de la Parra A, Bravo P, Okuma C, Cornejo V. Arias C, et al. Among authors: okuma c. JIMD Rep. 2014;12:1-4. doi: 10.1007/8904_2013_234. Epub 2013 Jul 2. JIMD Rep. 2014. PMID: 23818179 Free PMC article.
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
Castiglioni C, Verrigni D, Okuma C, Diaz A, Alvarez K, Rizza T, Carrozzo R, Bertini E, Miranda M. Castiglioni C, et al. Among authors: okuma c. Eur J Paediatr Neurol. 2015 Sep;19(5):497-503. doi: 10.1016/j.ejpn.2015.04.008. Epub 2015 May 14. Eur J Paediatr Neurol. 2015. PMID: 26008863 Review.
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.
Stellingwerff MD, Figuccia S, Bellacchio E, Alvarez K, Castiglioni C, Topaloglu P, Stutterd CA, Erasmus CE, Sanchez-Valle A, Lebon S, Hughes S, Schmitt-Mechelke T, Vasco G, Chow G, Rahikkala E, Dallabona C, Okuma C, Aiello C, Goffrini P, Abbink TEM, Bertini ES, Van der Knaap MS. Stellingwerff MD, et al. Among authors: okuma c. Neurol Genet. 2021 Feb 2;7(2):e559. doi: 10.1212/NXG.0000000000000559. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33977142 Free PMC article.
32 results