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Vaccination: a look at the social representations of Brazilian children.
de Gaspi S, Magalhães Júnior CAO, Tracana RB, Schneider EM, Carvalho GS. de Gaspi S, et al. Among authors: carvalho gs. Front Public Health. 2024 Dec 6;12:1434513. doi: 10.3389/fpubh.2024.1434513. eCollection 2024. Front Public Health. 2024. PMID: 39712311 Free PMC article.
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. J Med Genet. 2024 Dec 11:jmg-2024-109908. doi: 10.1136/jmg-2024-109908. Online ahead of print. J Med Genet. 2024. PMID: 39643435
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Tan QK, McConkie-Rosell A, Mahoney R, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M; Undiagnosed Diseases Network; Adams DR, Hisama FM, Shashi V. Tan QK, et al. Am J Med Genet A. 2024 Dec 4:e63956. doi: 10.1002/ajmg.a.63956. Online ahead of print. Am J Med Genet A. 2024. PMID: 39629753
Improved production of palitantin by design of experiments and semi-synthesis of palitantin derivatives for bioactivity assessment.
Santucci PM, de Oliveira CR, Monteiro AF, Mendes GR, de Amorim MR, Rosa GHS, Sette LD, Marchi RC, Deflon VM, Dos Santos PHT, Carvalho GG, Brocchi M, Guido RVC, Ferreira AG, de Oliveira KT, Berlinck RGS. Santucci PM, et al. Among authors: carvalho gg. Fitoterapia. 2025 Jan;180:106310. doi: 10.1016/j.fitote.2024.106310. Epub 2024 Nov 29. Fitoterapia. 2025. PMID: 39615703
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.
Giugliani R, de Siqueira ACM, Santos ES, Leão EKEA, Carvalho GDS, Santos MLSF, Raskin S, Martins AM. Giugliani R, et al. Among authors: carvalho gds. 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.
1,483 results