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Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
Tolezano GC, Bastos GC, da Costa SS, Scliar MO, de Souza CFM, Van Der Linden H Jr, Fernandes WLM, Otto PA, Vianna-Morgante AM, Haddad LA, Honjo RS, Yamamoto GL, Kim CA, Rosenberg C, Jorge AAL, Bertola DR, Krepischi ACV. Tolezano GC, et al. Among authors: de souza cfm. Mol Neurobiol. 2024 Jan 5. doi: 10.1007/s12035-023-03894-8. Online ahead of print. Mol Neurobiol. 2024. PMID: 38180615
Leigh syndrome global patient registry: uniting patients and researchers worldwide.
Zilber S, Woleben K, Johnson SC, de Souza CFM, Boyce D, Freiert K, Boggs C, Messahel S, Burnworth MJ, Afolabi TM, Kayani S. Zilber S, et al. Among authors: de souza cfm. Orphanet J Rare Dis. 2023 Sep 4;18(1):264. doi: 10.1186/s13023-023-02886-0. Orphanet J Rare Dis. 2023. PMID: 37667390 Free PMC article.
Consecutive Liver and Bone Marrow Transplantation for Erythropoietic Protoporphyria: Case Report and Literature Review.
Portich JP, Ribeiro AS, Rodrigues Taniguchi AN, Backes A, de Souza CFM, Kieling CO, Scherer FF, de Oliveira Poswar F, Leipnitz I, Doederlein Schwartz IV, Sekine L, Rigoni LDC, Marquardt da Silveira L, de Almeida Furlanetto M, Adami MR, Breunig RC, Guedes RR, do Amaral SN, Gonçalves Vieira SM, de Brum Soares T, Silva TO, da Rocha Silla LM, Astigarraga CC, Paz AA, Daudt LE. Portich JP, et al. Among authors: de souza cfm. J Pediatr Hematol Oncol. 2023 Oct 1;45(7):416-422. doi: 10.1097/MPH.0000000000002738. Epub 2023 Aug 3. J Pediatr Hematol Oncol. 2023. PMID: 37539993 Review.
Body composition in patients with hepatic glycogen storage diseases.
Dos Santos BB, Colonetti K, Nalin T, de Oliveira BM, de Souza CFM, Spritzer PM, Schwartz IVD. Dos Santos BB, et al. Among authors: de souza cfm. Nutrition. 2022 Nov-Dec;103-104:111763. doi: 10.1016/j.nut.2022.111763. Epub 2022 Jun 3. Nutrition. 2022. PMID: 35843041
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Montenegro YHA, de Souza CFM, Kubaski F, Trapp FB, Burin MG, Michelin-Tirelli K, Leistner-Segal S, Facchin ACB, Medeiros FS, Giugliani L, Ribeiro EM, Lourenço CM, Cardoso-Dos-Santos AC, Ribeiro MG, Kim CA, Castro MAA, Embiruçu EK, Steiner CE, Moreira MLC, Montano HQ, Baldo G, Giugliani R. Montenegro YHA, et al. Among authors: de souza cfm. Am J Med Genet A. 2022 Mar;188(3):760-767. doi: 10.1002/ajmg.a.62572. Epub 2021 Nov 22. Am J Med Genet A. 2022. PMID: 34806811
59 results