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Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II.
Clinics (Sao Paulo). 2022 Jul 23;77:100082. doi: 10.1016/j.clinsp.2022.100082. eCollection 2022.
Clinics (Sao Paulo). 2022.
PMID: 35882106
Free PMC article.
Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum.
Curiati MA, Kyosen SO, Pereira VG, Patrício FRDS, Martins AM.
Curiati MA, et al.
Case Rep Pediatr. 2018 Jan 21;2018:4375434. doi: 10.1155/2018/4375434. eCollection 2018.
Case Rep Pediatr. 2018.
PMID: 29527374
Free PMC article.
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A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report.
Gomes CP, Marins MM, Motta FL, Kyosen SO, Curiati MA, D'Almeida V, Martins AM, Pesquero JB.
Gomes CP, et al. Among authors: curiati ma.
Front Genet. 2020 Mar 18;10:1383. doi: 10.3389/fgene.2019.01383. eCollection 2019.
Front Genet. 2020.
PMID: 32256517
Free PMC article.
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Effects of Aerobic Exercise Training in Late-Onset Pompe Disease Before and 1 Month after Enzyme Replacement Therapy.
Silva RM, Mendes CS, Aranda CC, Curiati MA, Rand MH, Kyosen SO, Sakata ET, Canossa S, Frangipani BJ, Martins AM.
Silva RM, et al. Among authors: curiati ma.
J Neuromuscul Dis. 2015;2(s1):S32.
J Neuromuscul Dis. 2015.
PMID: 27858627
No abstract available.
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Effects of Exercise Training on Functional Capacity and Quality of Life in a Patient with Late-Onset Pompe Disease Receiving Enzyme Replacement Therapy.
Silva RM, Mendes CS, Aranda CC, Curiati MA, Rand MH, Kyosen SO, Sakata ET, Canossa S, Oliveira RB, Martins AM.
Silva RM, et al. Among authors: curiati ma.
J Neuromuscul Dis. 2015;2(s1):S33.
J Neuromuscul Dis. 2015.
PMID: 27858628
No abstract available.
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Functional Characterization and Pharmacological Evaluation of a Novel GLA Missense Mutation Found in a Severely Affected Fabry Disease Family.
Varela P, Mastroianni Kirsztajn G, Ferrer H, Aranda C, Wallbach K, Ferreira da Mata G, Moura LA, Moreira SR, Mendes C, Curiati MA, Martins AM, Bosco Pesquero J.
Varela P, et al. Among authors: curiati ma.
Nephron. 2020;144(3):147-155. doi: 10.1159/000503998. Epub 2019 Oct 30.
Nephron. 2020.
PMID: 31665721
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Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review.
Perrone E, Cavole TR, Oliveira MG, Virmond LDA, Silva MFB, Soares MFF, Iglesias SBO, Falconi A, Silva JS, Nakano V, Milanezi MF, Mendes CSC, Curiati MA, Micheletti C.
Perrone E, et al. Among authors: curiati ma.
Genet Mol Biol. 2020 May 29;43(2):e20180271. doi: 10.1590/1678-4685-GMB-2018-0271. eCollection 2020.
Genet Mol Biol. 2020.
PMID: 32478789
Free PMC article.
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