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Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement.
Orphanet J Rare Dis. 2024 Nov 26;19(1):436. doi: 10.1186/s13023-024-03463-9.
Orphanet J Rare Dis. 2024.
PMID: 39593190
Free PMC article.
Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.
Nóbrega PR, Paiva ARB, Amorim Junior AD, Lima PLGSB, Cabral KSS, Barcelos IP, Pessoa ALS, Souza-Lima CFL, Castro MAA, Freua F, Santos ES, Rocha MMV, Maia RE, Araújo RS, Ramos JDG, Resende RG, Carvalho GDS, Valença LPA, Lima de Carvalho JR Jr, Melo ES, Pedroso JL, Barsottini OGP, Houlden H, Kok F, Lynch DS.
Nóbrega PR, et al. Among authors: carvalho gds.
Genet Med. 2024 Oct 9;27(1):101291. doi: 10.1016/j.gim.2024.101291. Online ahead of print.
Genet Med. 2024.
PMID: 39394881
Free article.
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Normalization of deviance in pediatric hospital: perception of health workers.
Carvalho GDS, Beserra EP, Bandeira EDS, Rodrigues AB, Farias IL, Oliveira PM, Oliveira RM.
Carvalho GDS, et al.
Rev Gaucha Enferm. 2023 Jun 23;44:e20220236. doi: 10.1590/1983-1447.2023.20220236.en. eCollection 2023.
Rev Gaucha Enferm. 2023.
PMID: 37377272
Free article.
English, Portuguese.
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Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients.
Basgalupp SP, Siebert M, Vairo FPE, Chami AM, Pinto LLC, Carvalho GDS, Schwartz IVD.
Basgalupp SP, et al. Among authors: carvalho gds.
Blood Cells Mol Dis. 2018 Feb;68:17-20. doi: 10.1016/j.bcmd.2016.10.013. Epub 2016 Oct 20.
Blood Cells Mol Dis. 2018.
PMID: 27825739
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