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Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Genet Med. 2021 Dec;23(12):2369-2377. doi: 10.1038/s41436-021-01285-9. Epub 2021 Aug 2.
Genet Med. 2021.
PMID: 34341521
Free PMC article.
Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil.
Randon DN, Sperb-Ludwig F, Vianna FSL, Becker APP, Vargas CR, Sitta A, Sant'Ana AN, Schwartz IVD, Bitencourt FH.
Randon DN, et al.
Genet Mol Biol. 2020 Jul 24;43(3):20190298. doi: 10.1590/1678-4685-GMB-2019-0298.
Genet Mol Biol. 2020.
PMID: 32706845
Free PMC article.
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SARS-CoV-2 pandemic in the Brazilian community of rare diseases: A patient reported survey.
Schwartz IVD, Randon DN, Monsores N, Moura de Souza CF, Horovitz DDG, Wilke MVMB, Brunoni D.
Schwartz IVD, et al. Among authors: randon dn.
Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):301-311. doi: 10.1002/ajmg.c.31883. Epub 2021 Jan 20.
Am J Med Genet C Semin Med Genet. 2021.
PMID: 33474836
Free PMC article.
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A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF.
Vernet Machado Bressan Wilke M, Iop GD, Faqueti L, Lemos da Silva LA, Kubaski F, Poswar FO, Michelin-Tirelli K, Randon D, Borelli WV, Giugliani R, Schwartz IVD.
Vernet Machado Bressan Wilke M, et al.
Int J Mol Sci. 2024 Mar 1;25(5):2870. doi: 10.3390/ijms25052870.
Int J Mol Sci. 2024.
PMID: 38474117
Free PMC article.
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Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF.
Wilke MVMB, Poswar F, Borelli WV, Michelin Tirelli K, Randon DN, Lopes FF, Pasetto FB, Sebastião FM, Iop GD, Faqueti L, da Silva LA, Kubaski F, Schuh AFS, Giugliani R, Schwartz IVD.
Wilke MVMB, et al. Among authors: randon dn.
Orphanet J Rare Dis. 2023 Oct 2;18(1):309. doi: 10.1186/s13023-023-02875-3.
Orphanet J Rare Dis. 2023.
PMID: 37784132
Free PMC article.
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