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Page 1
New variants expand the neurological phenotype of COQ7 deficiency.
Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julia-Palacios NA, Jou C, Yubero D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch R, Santos-Ocaña C. Fabra MA, et al. Among authors: sanchez pintos p. J Inherit Metab Dis. 2024 Sep;47(5):1047-1068. doi: 10.1002/jimd.12776. Epub 2024 Jul 8. J Inherit Metab Dis. 2024. PMID: 38973597
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.
Del Caño-Ochoa F, Ng BG, Rubio-Del-Campo A, Mahajan S, Wilson MP, Vilar M, Rymen D, Sánchez-Pintos P, Kenny J, Ley Martos M, Campos T, Wortmann SB, Freeze HH, Ramón-Maiques S. Del Caño-Ochoa F, et al. Among authors: sanchez pintos p. J Inherit Metab Dis. 2023 Nov;46(6):1170-1185. doi: 10.1002/jimd.12667. Epub 2023 Sep 11. J Inherit Metab Dis. 2023. PMID: 37540500 Free PMC article.
Carbohydrate status in patients with phenylketonuria.
Couce ML, Sánchez-Pintos P, Vitoria I, De Castro MJ, Aldámiz-Echevarría L, Correcher P, Fernández-Marmiesse A, Roca I, Hermida A, Martínez-Olmos M, Leis R. Couce ML, et al. Orphanet J Rare Dis. 2018 Jun 27;13(1):103. doi: 10.1186/s13023-018-0847-x. Orphanet J Rare Dis. 2018. PMID: 29945661 Free PMC article.
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
Couce ML, Sánchez-Pintos P, Aldámiz-Echevarría L, Vitoria I, Navas V, Martín-Hernández E, García-Volpe C, Pintos G, Peña-Quintana L, Hernández T, Gil D, Sánchez-Valverde F, Bueno M, Roca I, López-Ruzafa E, Díaz-Fernández C. Couce ML, et al. Medicine (Baltimore). 2019 Sep;98(39):e17303. doi: 10.1097/MD.0000000000017303. Medicine (Baltimore). 2019. PMID: 31574857 Free PMC article.
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.
Martín-Hernández E, Quijada-Fraile P, Correcher P, Meavilla S, Sánchez-Pintos P, de Las Heras Montero J, Blasco-Alonso J, Dougherty L, Marquez A, Peña-Quintana L, Cañedo E, García-Jimenez MC, Moreno Lozano PJ, Murray Hurtado M, Camprodon Gómez M, Barrio-Carreras D, de Los Santos M, Del Toro M, Couce ML, Vitoria Miñana I, Morales Conejo M, Bellusci M. Martín-Hernández E, et al. Among authors: sanchez pintos p. J Clin Med. 2022 Aug 28;11(17):5045. doi: 10.3390/jcm11175045. J Clin Med. 2022. PMID: 36078975 Free PMC article.
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
Couce ML, Sánchez-Pintos P, Diogo L, Leão-Teles E, Martins E, Santos H, Bueno MA, Delgado-Pecellín C, Castiñeiras DE, Cocho JA, García-Villoria J, Ribes A, Fraga JM, Rocha H. Couce ML, et al. Orphanet J Rare Dis. 2013 Jul 10;8:102. doi: 10.1186/1750-1172-8-102. Orphanet J Rare Dis. 2013. PMID: 23842438 Free PMC article.
[Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results.].
Sánchez Pintos P, Cocho de Juan JÁ, Bóveda Fontán MD, Castiñeiras Ramos DE, Colón Mejeras C, Iglesias Rodríguez AJ, de Castro López MJ, Alonso Fernández JR, Fraga Bermúdez JM, Couce Pico ML. Sánchez Pintos P, et al. Rev Esp Salud Publica. 2020 Dec 16;94:e202012161. Rev Esp Salud Publica. 2020. PMID: 33323918 Free PMC article. Spanish.
32 results