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Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
Busquets C, Merinero B, Christensen E, Gelpí JL, Campistol J, Pineda M, Fernández-Alvarez E, Prats JM, Sans A, Arteaga R, Martí M, Campos J, Martínez-Pardo M, Martínez-Bermejo A, Ruiz-Falcó ML, Vaquerizo J, Orozco M, Ugarte M, Coll MJ, Ribes A. Busquets C, et al. Among authors: marti m. Pediatr Res. 2000 Sep;48(3):315-22. doi: 10.1203/00006450-200009000-00009. Pediatr Res. 2000. PMID: 10960496
Trichoteiromania: A multicentre retrospective descriptive and analytical study of 129 cases.
Costa MR, de Xavier de Brito FO, Yamagata JP, Machado CJ, Piraccini BM, Starace M, Quadrelli F, D'Atri G, Marti M, Salas-Callo CI, Asz-Sigall D, Anzai A, Saceda Corralo D, Pirmez R, Vañó-Galvan S, Ovcharenko Y, Doroshkevich A, Leroy AK, Tosti A, Dos Santos Lima C, Vincenzi C, Silyuk T, de Mattos Barreto T, Blanco A, Galavotti Silveira AL, Bhoyrul B, Cortez GL, de Almeida Faro GB, Doche I, Yoong NKM, Sánchez Dueñas LE, Ortiz Kuñasich Y, Ferreira Viana PFM, Kakizaki P, Iorizzo M, Sinclair R, Florenço VM, Obadia DL, Cortez de Almeida RF, Melo DF. Costa MR, et al. Among authors: marti m. J Eur Acad Dermatol Venereol. 2025 Jan 9. doi: 10.1111/jdv.20532. Online ahead of print. J Eur Acad Dermatol Venereol. 2025. PMID: 39785709 No abstract available.
Extreme Phenotypic Variability of ACTG1-Related Disorders in Hearing Loss.
Bernardi MT, Ramzan M, Calderon L, Salvatore F, De Rosa MA, Bivona S, Armando R, Vazquez N, Azcoiti ME, Marti MA, Arberas C, Ropelato MG, Olha S, Lam BL, Telischi FF, Tekin M, Walz K. Bernardi MT, et al. Among authors: marti ma. Adv Genet (Hoboken). 2024 Dec 5;5(4):2400040. doi: 10.1002/ggn2.202400040. eCollection 2024 Dec. Adv Genet (Hoboken). 2024. PMID: 39734360 Free PMC article.
1,370 results