المؤلفون: Kiparissi, Fevronia, Dastamani, Antonia, Palm, Liina, Azabdaftari, Aline, Campos, Luis, Gaynor, Edward, Grünewald, Stephanie, Uhlig, Holm H.^{Aff4, Aff6}, Kleta, Robert^{Aff7, Aff8}, Böckenhauer, Detlef^{Aff7, Aff8}, Jones, Kelsey D. J.^{Aff1, Aff9, IDs00439023025237_cor11}

المصدر: Human Genetics. 142(5):697-704

المؤلفون: Forny, Patrick^Aff1, Grünewald, Stephanie^Aff2, Baumgartner, Matthias^Aff1

المساهمون: Emma, Francesco, editor^Aff500, Goldstein, Stuart L., editor^Aff501, Bagga, Arvind, editor^Aff502, Bates, Carlton M., editor^Aff503, Shroff, Rukshana, editor^Aff504

المصدر: Pediatric Nephrology. :799-806

المؤلفون: Grünewald, Stephanie^Aff6, Davison, James^Aff6, Martinelli, Diego^Aff7, Dionisi Vici, Carlo^Aff7

المساهمون: Blau, Nenad, editor^Aff1, Dionisi Vici, Carlo, editor^Aff2, Ferreira, Carlos R., editor^Aff3, Vianey-Saban, Christine, editor^Aff4, van Karnebeek, Clara D. M., editor^Aff5

المصدر: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. :171-181

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المؤلفون: Derks, Britt^{Aff1, Aff2, Aff3, Aff4}, Demirbas, Didem, Arantes, Rodrigo R., Banford, Samantha, Burlina, Alberto B.^{Aff3, Aff8}, Cabrera, Analía, Chiesa, Ana, Couce, M. Luz^{Aff3, Aff11}, Dionisi-Vici, Carlo^{Aff3, Aff12}, Gautschi, Matthias, Grünewald, Stephanie, Morava, Eva, Möslinger, Dorothea, Scholl-Bürgi, Sabine^{Aff3, Aff17}, Skouma, Anastasia, Stepien, Karolina M., Timson, David J., Berry, Gerard T., Rubio-Gozalbo, M. Estela^{Aff1, Aff2, Aff3, Aff4, IDs13023022024944_cor19}

المصدر: Orphanet Journal of Rare Diseases. 17(1)

المؤلفون: Posset, Roland, Garbade, Sven F, Boy, Nikolas, Burlina, Alberto B, Dionisi‐Vici, Carlo, Dobbelaere, Dries, Garcia‐Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leão, Vara, Roshni, Mew, Nicholas Ah, Batshaw, Mark L, Baumgartner, Matthias R, McCandless, Shawn E, Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F, Kölker, Stefan, Burgard, Peter, Berry, Susan A, Burrage, Lindsay, Coughlin, Curtis, Diaz, George A, Gallagher, Renata C, Gropman, Andrea, Harding, Cary O, Lee, Brendan, Le Mons, Cynthia, Lawrence Merritt, J, Nagamani, Sandesh CS, Schulze, Andreas, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, WeisfeldAdams, James, Wong, Derek, Yudkoff, Marc, Arnoux, JeanBaptiste, Barić, Ivo, Bosch, Annet M, Chabrol, Brigitte, Chakrapani, Anupam, CortèsSaladefont, Elisenda, Couce, Maria L, Eyskens, Francois, Laet, Corine, Meirleir, Linda, Freisinger, Peter, Gleich, Florian, Grünewald, Stephanie, Häberle, Johannes, Hwu, WuhLiang, Jalan, Anil, Karall, Daniela, Lindner, Martin, Lund, Allan M, Martinelli, Diego, Murphy, Elaine, Mühlhausen, Chris, Olivieri, Giorgia, Ottolenghi, Chris, Rodrigues, Esmeralda, Rubert, Laura, Sarajlija, Adrijan, Schiff, Manuel, Sokal, Etienne, SykutCegielska, Jolanta, Walter, John H, Williams, Monique, Zeman, Jiri

المصدر: Journal of Inherited Metabolic Disease. 42(1)

مصطلحات موضوعية: Clinical Research, Pediatric, Digestive Diseases, Neurodegenerative, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Good Health and Well Being, Cohort Studies, Data Analysis, Delayed Diagnosis, Europe, Female, Humans, Infant, Newborn, Male, Neonatal Screening, North America, Ornithine Carbamoyltransferase Deficiency Disease, Rare Diseases, Urea, Urea Cycle Disorders, Inborn, Urea cycle Disorders, international registry and database, diagnostic methods, Additional individual contributors of the UCDC and the E-IMD consortium, Clinical Sciences, Genetics & Heredity

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URL الوصول: https://escholarship.org/uc/item/5h73x4jb

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