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3.2 Biología Molecular en Enfermedades Neurodegenerativas
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Cursos
2025
Modulo 3
3.2 Biología Molecular y E.Neurodegenerativas
MÓDULO 1
Marquardt G, et al. Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med. 2012 Jul;14(7):648-55.
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Marquardt G, et al. Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med. 2012 Jul;14(7):648-55.
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◄ Austin CP,et al. Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective. Clin Transl Sci. 2018 Jan;11(1):21-27.
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Avisos
Cuestionario de expectativas
Cuestionario de conocimientos previos
Avisos
Austin CP,et al. Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective. Clin Transl Sci. 2018 Jan;11(1):21-27.
McHugh D,et al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67. PMID: 21325949.
Noronha A, et al. ReconMap: an interactive visualization of human metabolism. Bioinformatics. 2017 Feb 15;33(4):605-607.
Tesi B,et al. Precision medicine in rare diseases: What is next? J Intern Med. 2023 Oct;294(4):397-412.
Mendell JR, et al. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 2;377(18):1713-1722.
Tucci F,et al. A systematic review and meta-analysis of gene therapy with hematopoietic stem and progenitor cells for monogenic disorders. Nat Commun. 2022 Mar 14;13(1):1315.
Diagnóstico genético de las enfermedades raras
Peña-Chilet M, et al. CSVS, a crowdsourcing database of the Spanish population genetic variability. Nucleic Acids Res. 2021 Jan 8;49(D1):D1130-D1137.
Riess O, Sturm M, Menden B, Liebmann A, Demidov G, Witt D, Casadei N, Admard J, Schütz L, Ossowski S, Taylor S, Schaffer S, Schroeder C, Dufke A, Haack T. Genomes in clinical care. NPJ Genom Med. 2024 Mar 14;9(1):20. doi: 10.1038/s41525-024-00402-2.
Galán Carrillo I, et al. Multidisciplinary management improves the genetic diagnosis of hereditary kidney diseases in the next generation sequencing (NGS) era. Nefrologia (Engl Ed). 2024 Jan-Feb;44(1):69-76. doi: 10.1016/j.nefroe.2024.02.002.
Zaheer HA, Parameswarappa DC, Zaheer MA, Chhablani J, Patil-Chhablani P. Ocular Manifestations in Patients with Sensorineural Hearing Loss. J Ophthalmic Vis Res. 2022 Nov 29;17(4):551-573. doi: 10.18502/jovr.v17i4.12321.
Pape L, Ernst G. Health care transition from pediatric to adult care: an evidence-based guideline. Eur J Pediatr. 2022 May;181(5):1951-1958.
Moreno-Galdó A, et al. Implementation of programmes for the transition of adolescents to adult care. An Pediatr (Engl Ed). 2023 Dec;99(6):422-430.
Libro blanco de atención a la fibrosis quística
Programa de cribado neonatal de enfermedades endocrino-metabólicas de Andalucía.
Examen Final
Encuesta de satisfacción del curso
Encuesta de evaluación a los docentes
video 001 Miguel Ángel Moreno
video 002 Raquel Yahyaoui
video 003 Antonio Gonzalez Meneses
video 004 Paola Río.
McHugh D,et al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67. PMID: 21325949. ►
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