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GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
Ludwig NF, Velho RV, Sperb-Ludwig F, Acosta AX, Ribeiro EM, Kim CA, Gandelman Horovitz DD, Boy R, Rodovalho-Doriqui MJ, Lourenço CM, Santos ES, Braulke T, Pohl S, Schwartz IVD. Ludwig NF, et al. Int J Biochem Cell Biol. 2017 Nov;92:90-94. doi: 10.1016/j.biocel.2017.09.006. Epub 2017 Sep 14. Int J Biochem Cell Biol. 2017. PMID: 28918368
Osteopontin: a potential biomarker of Gaucher disease.
Vairo F, Sperb-Ludwig F, Wilke M, Michellin-Tirelli K, Netto C, Neto EC, Schwartz I. Vairo F, et al. Ann Hematol. 2015 Jul;94(7):1119-25. doi: 10.1007/s00277-015-2354-7. Epub 2015 Apr 1. Ann Hematol. 2015. PMID: 25875742
Determination of amylose/amylopectin ratio of starches.
Nalin T, Sperb-Ludwig F, Venema K, Derks TG, Schwartz IV. Nalin T, et al. J Inherit Metab Dis. 2015 Sep;38(5):985-6. doi: 10.1007/s10545-015-9850-8. Epub 2015 Apr 29. J Inherit Metab Dis. 2015. PMID: 25921820 No abstract available.
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
Borsatto T, Sperb-Ludwig F, Lima SE, S Carvalho MR, S Fonseca PA, S Camelo J Jr, M Ribeiro E, F V de Medeiros P, M Lourenço C, F M de Souza C, Boy R, Félix TM, M Bittar C, L C Pinto L, C Neto E, J Blom H, D Schwartz IV. Borsatto T, et al. PLoS One. 2017 May 12;12(5):e0177503. doi: 10.1371/journal.pone.0177503. eCollection 2017. PLoS One. 2017. PMID: 28498829 Free PMC article.
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
Borsatto T, Sperb-Ludwig F, Lima SE, Carvalho MRS, Fonseca PAS, Camelo JS Jr, Ribeiro EM, de Medeiros PFV, Lourenço CM, de Souza CFM, Boy R, Félix TM, Bittar CM, Pinto LLC, Neto EC, Blom HJ, Schwartz IVD. Borsatto T, et al. PLoS One. 2017 Jun 22;12(6):e0180463. doi: 10.1371/journal.pone.0180463. eCollection 2017. PLoS One. 2017. PMID: 28640880 Free PMC article.
44 results