المؤلفون: Guglielmo R.D. Villani, Lucia Albano, Marianna Caterino, Daniela Crisci, Silvia Di Tommaso, Simona Fecarotta, Maria Grazia Fisco, Giulia Frisso, Giovanna Gallo, Cristina Mazzaccara, Emanuela Marchese, Antonio Nolano, Giancarlo Parenti, Rita Pecce, Adriana Redi, Francesco Salvatore, Pietro Strisciuglio, Maria Grazia Turturo, Fabiana Vallone, Margherita Ruoppolo

المصدر: Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)

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

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426919301594; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/1235c310501b49afbe8c1eba65757f62

المؤلفون: Marianna Caterino, Lucia Albano, Antonio Nolano, Cristina Mazzaccara, Francesco Salvatore, Silvia Di Tommaso, Guglielmo R. D. Villani, Maria Grazia Fisco, Margherita Ruoppolo, Simona Fecarotta, Maria Grazia Turturo, Giulia Frisso, Pietro Strisciuglio, Emanuela Marchese, Daniela Crisci, Giancarlo Parenti, Giovanna Gallo, Fabiana Vallone, Adriana Redi, R. Pecce

المساهمون: Villani, G. R. D., Albano, L., Caterino, M., Crisci, D., Di Tommaso, S., Fecarotta, S., Fisco, M. G., Frisso, G., Gallo, G., Mazzaccara, C., Marchese, E., Nolano, A., Parenti, G., Pecce, R., Redi, A., Salvatore, F., Strisciuglio, P., Turturo, M. G., Vallone, F., Ruoppolo, M.

المصدر: Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Newborn screening, Pediatrics, medicine.medical_specialty, Case Report, AdoCbl, 5′-deoxyadenosylcobalamin NBS, Homocystinuria, Hypermethioninemia, Cbl, cobalamin, CBS deficiency, MAT I/III deficiency, chemistry.chemical_compound, Endocrinology, DBS, dried blood spot samples, Genetics, medicine, CBS, cystathionine β-synthase, lcsh:QH301-705.5, Molecular Biology, lcsh:R5-920, Methionine, biology, business.industry, Incidence (epidemiology), medicine.disease, Cystathionine beta synthase, Dried blood spot, MAT I/III, methionine adenosyltransferase type I and III, lcsh:Biology (General), chemistry, Methionine Adenosyltransferase, biology.protein, lcsh:Medicine (General), business, NBS, Newborn screening

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58192da6cc52f81f3ea2cf3fc8e51f5e
https://doi.org/10.1016/j.ymgmr.2019.100520