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88 results

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Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.
Tresbach RH, Sperb-Ludwig F, Ligabue-Braun R, Bitencourt FH, Tonon T, Souza CFM, Poswar FO, Leite MEQ, Amorim T, Porta G, Seda Neto J, Miura IK, Steiner CE, Martins AM, Pessoa ALS, Ribeiro EM, Schwartz IVD. Tresbach RH, et al. Among authors: souza cfm. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108569. doi: 10.1016/j.ymgme.2024.108569. Epub 2024 Aug 29. Mol Genet Metab. 2024. PMID: 39270351
The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant.
Pinheiro FC, Ligabue-Braun R, Siqueira ACM, Matuella C, Souza CFM, Monteiro FP, Kok F, Schwartz IVD, Sperb-Ludwig F. Pinheiro FC, et al. Among authors: souza cfm. Genet Mol Biol. 2021 May 14;44(2):e20200281. doi: 10.1590/1678-4685-GMB-2020-0281. eCollection 2021. Genet Mol Biol. 2021. PMID: 33999094 Free PMC article.
Disease progression in Sanfilippo type B: Case series of Brazilian patients.
Montenegro YHA, Kubaski F, Trapp FB, Riegel-Giugliani M, Souza CFM, Ribeiro EM, Lourenço CM, Cardoso-Dos-Santos AC, Ribeiro MG, Kim CA, Castro MAA, Embiruçu EK, Steiner CE, Vairo FPE, Baldo G, Giugliani R, Poswar FO. Montenegro YHA, et al. Among authors: souza cfm. Genet Mol Biol. 2024 Mar 8;47(1):e20230285. doi: 10.1590/1678-4685-GMB-2023-0285. eCollection 2024. Genet Mol Biol. 2024. PMID: 38488524 Free PMC article.
Maple syrup urine disease in Brazil: a panorama of the last two decades.
Herber S, Schwartz IV, Nalin T, Oliveira Netto CB, Camelo Junior JS, Santos ML, Ribeiro EM, Schüler-Faccini L, Souza CF. Herber S, et al. J Pediatr (Rio J). 2015 May-Jun;91(3):292-8. doi: 10.1016/j.jped.2014.08.010. Epub 2014 Dec 12. J Pediatr (Rio J). 2015. PMID: 25512172 Free article.
Lysosomal diseases: Overview on current diagnosis and treatment.
Poswar FO, Vairo F, Burin M, Michelin-Tirelli K, Brusius-Facchin AC, Kubaski F, Souza CFM, Baldo G, Giugliani R. Poswar FO, et al. Among authors: souza cfm. Genet Mol Biol. 2019;42(1 suppl 1):165-177. doi: 10.1590/1678-4685-GMB-2018-0159. Epub 2019 Apr 25. Genet Mol Biol. 2019. PMID: 31067291 Free PMC article.
Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases.
Vieira TA, Trapp FB, Souza CFM, Faccini LS, Jardim LB, Schwartz IVD, Riegel M, Vargas CR, Burin MG, Leistner-Segal S, Ashton-Prolla P, Giugliani R. Vieira TA, et al. Among authors: souza cfm. Genet Mol Biol. 2019;42(1 suppl 1):155-164. doi: 10.1590/1678-4685-GMB-2018-0214. Epub 2019 Jun 10. Genet Mol Biol. 2019. PMID: 31188934 Free PMC article.
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center.
Magalhães APPS, Burin MG, Souza CFM, de Bitencourt FH, Sebastião FM, Silva TO, Vairo FPE, Schwartz IVD. Magalhães APPS, et al. Among authors: souza cfm. J Pediatr (Rio J). 2020 Nov-Dec;96(6):710-716. doi: 10.1016/j.jped.2019.05.008. Epub 2019 Oct 31. J Pediatr (Rio J). 2020. PMID: 31677975 Free PMC article.
Hypersensitivity reactions and enzyme replacement therapy: Outcomes and safety of rapid desensitization in 1,008 infusions.
Aranda CS, Aun MV, Souza CFM, Pinto LLC, Porras-Hurtado GL, Salgado OFS, Arantes RR, Martins AM, Solé D. Aranda CS, et al. Among authors: souza cfm. J Allergy Clin Immunol Pract. 2022 Mar;10(3):870-873.e1. doi: 10.1016/j.jaip.2021.10.052. Epub 2021 Nov 4. J Allergy Clin Immunol Pract. 2022. PMID: 34742930 Free article. No abstract available.
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.
Saute JA, Souza CF, Poswar FO, Donis KC, Campos LG, Deyl AV, Burin MG, Vargas CR, Matte UD, Giugliani R, Saraiva-Pereira ML, Vedolin LM, Gregianin LJ, Jardim LB. Saute JA, et al. Arq Neuropsiquiatr. 2016 Dec;74(12):953-966. doi: 10.1590/0004-282X20160155. Arq Neuropsiquiatr. 2016. PMID: 27991992 Free article.
88 results