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1988 1
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255 results

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Page 1
Perinatal palliative care.
Martín-Ancel A, Pérez-Muñuzuri A, González-Pacheco N, Boix H, Espinosa Fernández MG, Sánchez-Redondo MD, Cernada M, Couce ML; en representación del Comité de Estándares, Sociedad Española de Neonatología. Martín-Ancel A, et al. Among authors: couce ml. An Pediatr (Engl Ed). 2022 Jan;96(1):60.e1-60.e7. doi: 10.1016/j.anpede.2021.10.003. Epub 2022 Jan 5. An Pediatr (Engl Ed). 2022. PMID: 34998731 Free article.
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C. Huemer M, et al. Among authors: couce ml. J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30. J Inherit Metab Dis. 2017. PMID: 27905001 Free PMC article. Review.
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management.
Sawamoto K, Álvarez González JV, Piechnik M, Otero FJ, Couce ML, Suzuki Y, Tomatsu S. Sawamoto K, et al. Among authors: couce ml. Int J Mol Sci. 2020 Feb 23;21(4):1517. doi: 10.3390/ijms21041517. Int J Mol Sci. 2020. PMID: 32102177 Free PMC article. Review.
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
Derks TGJ, Rodriguez-Buritica DF, Ahmad A, de Boer F, Couce ML, Grünert SC, Labrune P, López Maldonado N, Fischinger Moura de Souza C, Riba-Wolman R, Rossi A, Saavedra H, Gupta RN, Valayannopoulos V, Mitchell J. Derks TGJ, et al. Among authors: couce ml. Nutrients. 2021 Oct 27;13(11):3828. doi: 10.3390/nu13113828. Nutrients. 2021. PMID: 34836082 Free PMC article. Review.
Sleep disorders in phenylketonuria.
Couce ML. Couce ML. Eur J Paediatr Neurol. 2019 Sep;23(5):670-671. doi: 10.1016/j.ejpn.2019.09.002. Epub 2019 Sep 4. Eur J Paediatr Neurol. 2019. PMID: 31526703 No abstract available.
Editorial: NGS technologies of rare diseases diagnosis.
Couce ML, González-Vioque E. Couce ML, et al. Front Pediatr. 2022 Nov 12;10:1032359. doi: 10.3389/fped.2022.1032359. eCollection 2022. Front Pediatr. 2022. PMID: 36444169 Free PMC article. No abstract available.
Sedoanalgesia in neonatal units.
Espinosa Fernández MG, González-Pacheco N, Sánchez-Redondo MD, Cernada M, Martín A, Pérez-Muñuzuri A, Boix H, Couce ML; representing the Comité de Estándares. Sociedad Española de Neonatología. Espinosa Fernández MG, et al. Among authors: couce ml. An Pediatr (Engl Ed). 2021 Aug;95(2):126.e1-126.e11. doi: 10.1016/j.anpede.2020.10.006. Epub 2021 Jul 28. An Pediatr (Engl Ed). 2021. PMID: 34332948 Free article. Review.
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A, Roca I, Díaz-Flores F, Cantarín V, Pérez-Poyato MS, Fontalba A, Laranjeira F, Quintans S, Moldovan O, Felgueroso B, Rodríguez-Pedreira M, Simón R, Camacho A, Quijada P, Ibanez-Mico S, Domingno MR, Benito C, Calvo R, Pérez-Cejas A, Carrasco ML, Ramos F, Couce ML, Ruiz-Falcó ML, Gutierrez-Solana L, Martínez-Atienza M. Fernández-Marmiesse A, et al. Among authors: couce ml. Front Neurosci. 2019 Nov 8;13:1135. doi: 10.3389/fnins.2019.01135. eCollection 2019. Front Neurosci. 2019. PMID: 31780880 Free PMC article.
255 results