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A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
Katler QS, Stepien KM, Paull N, Patel S, Adams M, Balci MC, Berry GT, Bosch AM, DeLaO A, Demirbas D, Edman J, Ficicioglu C, Goff M, Hacker S, Knerr I, Lancaster K, Li H, Mendelsohn BA, Nichols B, de Rezende Pinto WBV, Rocha JC, Rubio-Gozalbo ME, Saad-Naguib M, Scholl-Buergi S, Searcy S, de Souza PVS, Wittenauer A, Fridovich-Keil JL. Katler QS, et al. Among authors: de souza pvs. J Inherit Metab Dis. 2022 Nov;45(6):1106-1117. doi: 10.1002/jimd.12556. Epub 2022 Sep 26. J Inherit Metab Dis. 2022. PMID: 36093991 Free PMC article.
Normal muscle structure, growth, development, and regeneration.
de Rezende Pinto WB, de Souza PV, Oliveira AS. de Rezende Pinto WB, et al. Curr Rev Musculoskelet Med. 2015 Jun;8(2):176-81. doi: 10.1007/s12178-015-9267-x. Curr Rev Musculoskelet Med. 2015. PMID: 25860794 Free PMC article.
Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.
de Souza PVS, de Rezende Pinto WBV, de Rezende Batistella GN, Bortholin T, Oliveira ASB. de Souza PVS, et al. Among authors: de rezende batistella gn, de rezende pinto wbv. Cerebellum. 2017 Apr;16(2):525-551. doi: 10.1007/s12311-016-0803-z. Cerebellum. 2017. PMID: 27271711 Review.
Postictal thoracocervicofacial purpura.
de Souza PVS, Bortholin T, de Rezende Pinto WBV, Santos AJ. de Souza PVS, et al. Among authors: de rezende pinto wbv. Pract Neurol. 2017 Aug;17(4):306. doi: 10.1136/practneurol-2017-001633. Epub 2017 Apr 20. Pract Neurol. 2017. PMID: 28428228 No abstract available.
40 results