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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: alvarez k. 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: alvarez k. Neurol Genet. 2021 Feb 2;7(2):e559. doi: 10.1212/NXG.0000000000000559. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33977142 Free PMC article.
Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile.
Alvarez K, Suarez B, Palomino MA, Hervias C, Calcagno G, Martínez-Jalilie M, Lozano-Arango A, Lillo S, Haro M, Cortés F, Pantoja S, Chahin A, Orellana P, Bevilacqua JA, Bertini E, Castiglioni C. Alvarez K, et al. Arq Neuropsiquiatr. 2019 Jul 29;77(7):470-477. doi: 10.1590/0004-282X20190073. Arq Neuropsiquiatr. 2019. PMID: 31365638 Free article.
EGFR pathway subgroups in Chilean colorectal cancer patients, detected by mutational and expression profiles, associated to different clinicopathological features.
Alvarez K, Orellana P, Villarroel C, Contreras L, Kawachi H, Kobayashi M, Wielandt AM, De la Fuente M, Triviño JC, Kronberg U, Carvallo P, López-Köstner F. Alvarez K, et al. Tumour Biol. 2017 Sep;39(9):1010428317724517. doi: 10.1177/1010428317724517. Tumour Biol. 2017. PMID: 28936923 Free article.
311 results