المؤلفون: S. Pajares, R.M. López, L. Gort, A. Argudo-Ramírez, J.L. Marín, J.M. González de Aledo-Castillo, J. García-Villoria, J.A. Arranz, M. Del Toro, F. Tort, O. Ugarteburu, M.D. Casellas, R. Fernández, A. Ribes

المصدر: Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426919301855; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/958857d1a4164251bc6724b921d83ed0

المؤلفون: Sonia Pajares, J. Garcia-Villoria, Laura Gort, Ana Argudo-Ramírez, Olatz Ugarteburu, J.M. González De Aledo-Castillo, Antonia Ribes, J. A. Arranz, Frederic Tort, R.M. López, M.D. Casellas, Raúl Debesa Fernández, José Luis Marín, M. del Toro

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 22, Iss, Pp-(2020)

مصطلحات موضوعية: Newborn screening, Pediatrics, medicine.medical_specialty, C3DC, malonylcarnitine, Tiglylcarnitine, Genetic counseling, 2-methyl-2,3-dihydroxybutyric acid, Case Report, ECHS1 deficiency, Disease, Congenital lactic acidosis, TMS, trimethylsilyl, ECHS1, short-chain enoyl-CoA hydratase, 3MGA, 3-methylglutaconic acid, Endocrinology, Mutations in ECHS1, Genetics, medicine, HIBCH, 3-hydroxy-isobutyryl-CoA hydrolase, Molecular Biology, Exome, lcsh:QH301-705.5, C4OH, 3-hydroxy-butyrylcarnitine\3-hydoxy-isobutyrylcarnitine, DBS, dried blood spot, Dystonia, lcsh:R5-920, business.industry, medicine.disease, PDH, pyruvate dehydrogenase, C5:1, tiglylcarnitine, NBS, Newborn Screening, lcsh:Biology (General), MS, mass spectrometry, 3-hydroxy-butyrylcarnitine\3-hydoxy-isobutyrylcarnitine, Hypertonia, medicine.symptom, DUS, dried urine spot, business, lcsh:Medicine (General), GC, gas chromatography, MRI, magnetic resonance imaging, Cutis laxa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29b97a5762017c7115787a61efed9d8d
http://europepmc.org/articles/PMC6940607

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