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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2021 | 2 |
2022 | 1 |
2023 | 2 |
2024 | 1 |
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6 results
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Page 1
A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study.
Biomedicines. 2023 Jan 26;11(2):363. doi: 10.3390/biomedicines11020363.
Biomedicines. 2023.
PMID: 36830903
Free PMC article.
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.
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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Expanding the phenotype of DNAJC30-associated Leigh syndrome.
Zawadzka M, Krygier M, Pawłowicz M, Wilke MVMB, Rutkowska K, Gueguen N, Desquiret-Dumas V, Klee EW, Schimmenti LA, Sławek J, Procaccio V, Płoski R, Mazurkiewicz-Bełdzińska M.
Zawadzka M, et al. Among authors: wilke mvmb.
Clin Genet. 2022 Nov;102(5):438-443. doi: 10.1111/cge.14196. Epub 2022 Jul 29.
Clin Genet. 2022.
PMID: 35861300
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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: wilke mvmb.
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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Spontaneous Pubertal Onset in a Male Patient With Mixed Gonadal Dysgenesis With Mosaicism 45,X/ 46, X, mar (Y)/ 47,X,mar(Y),+mar(Y) - Pediatric Case Report.
Wilke MVMB, Costa EC, Leite JCL, Lucena IRS, Hemesath TP, Carvalho CG, Riegel M, Guaragna-Filho G.
Wilke MVMB, et al.
Urology. 2021 Dec;158:204-207. doi: 10.1016/j.urology.2021.08.018. Epub 2021 Aug 23.
Urology. 2021.
PMID: 34437894
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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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