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Page 1
Universal newborn screening: A roadmap for action.
Howson CP, Cedergren B, Giugliani R, Huhtinen P, Padilla CD, Palubiak CS, Santos MD, Schwartz IVD, Therrell BL, Umemoto A, Wang J, Zeng X, Zhao X, Zhong N, McCabe ERB. Howson CP, et al. Among authors: schwartz ivd. Mol Genet Metab. 2018 Jul;124(3):177-183. doi: 10.1016/j.ymgme.2018.04.009. Epub 2018 Apr 25. Mol Genet Metab. 2018. PMID: 29884465 Free article.
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
Brusius-Facchin AC, Schwartz IV, Zimmer C, Ribeiro MG, Acosta AX, Horovitz D, Monlleó IL, Fontes MI, Fett-Conte A, Sobrinho RP, Duarte AR, Boy R, Mabe P, Ascurra M, de Michelena M, Tylee KL, Besley GT, Garreton MC, Giugliani R, Leistner-Segal S. Brusius-Facchin AC, et al. Mol Genet Metab. 2014 Feb;111(2):133-8. doi: 10.1016/j.ymgme.2013.08.011. Epub 2013 Sep 1. Mol Genet Metab. 2014. PMID: 24125893
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.
Málaga DR, Brusius-Facchin AC, Siebert M, Pasqualim G, Saraiva-Pereira ML, Souza CFM, Schwartz IVD, Matte U, Giugliani R. Málaga DR, et al. Among authors: schwartz ivd. Genet Mol Biol. 2019;42(1 suppl 1):197-206. doi: 10.1590/1678-4685-GMB-2018-0092. Epub 2019 Apr 11. Genet Mol Biol. 2019. PMID: 30985853 Free PMC article.
Corrigendum to Universal newborn screening: A roadmap for action molecular genetics and metabolism 124 (2018) 177-183.
Howson CP, Cedergren B, Giugliani R, Huhtinen P, Padilla CD, Palubiak CS, Santos MD, Schwartz IVD, Therrell BL, Umemoto A, Wang J, Zeng X, Zhao X, Zhong N, McCabe ERB. Howson CP, et al. Among authors: schwartz ivd. Mol Genet Metab. 2019 Jul;127(3):216-217. doi: 10.1016/j.ymgme.2019.04.009. Epub 2019 Jun 20. Mol Genet Metab. 2019. PMID: 31230977 No abstract available.
Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries.
Elstein D, Giugliani R, Muenzer J, Schenk J, Schwartz IVD, Anagnostopoulou C. Elstein D, et al. Among authors: schwartz ivd. Mol Genet Metab Rep. 2021 Sep;28:100788. doi: 10.1016/j.ymgmr.2021.100788. Epub 2021 Aug 4. Mol Genet Metab Rep. 2021. PMID: 34367919 Free PMC article.
216 results