المؤلفون: Burgard, Peter^Aff5, Lachmann, Robin H.^Aff6, Walter, John H.^Aff7

المساهمون: Saudubray, Jean-Marie, editor^Aff1, Baumgartner, Matthias R., editor^Aff2, García-Cazorla, Ángeles, editor^Aff3, Walter, John, editor^Aff4

المصدر: Inborn Metabolic Diseases : Diagnosis and Treatment. :337-354

المؤلفون: Berry, Gerard T.^Aff5, Walter, John H.^Aff6, Fridovich-Keil, Judith L.^Aff7

المساهمون: Saudubray, Jean-Marie, editor^Aff1, Baumgartner, Matthias R., editor^Aff2, García-Cazorla, Ángeles, editor^Aff3, Walter, John, editor^Aff4

المصدر: Inborn Metabolic Diseases : Diagnosis and Treatment. :315-325

المؤلفون: Walter, John H.^Aff5, Labrune, Philippe^Aff6, Laforêt, Pascal^Aff7

المساهمون: Saudubray, Jean-Marie, editor^Aff1, Baumgartner, Matthias R., editor^Aff2, García-Cazorla, Ángeles, editor^Aff3, Walter, John, editor^Aff4

المصدر: Inborn Metabolic Diseases : Diagnosis and Treatment. :179-200

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

وصف الملف: application/pdf

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

المؤلفون: Walter, John H.^Aff6, Blom, Henk J.^Aff7

المساهمون: Oohashi, Toshitaka, editor^Aff1, Tsukahara, Hirokazu, editor^Aff2, Ramirez, Francesco, editor^Aff3, Barber, Chad L., editor^Aff4, Otsuka, Fumio, editor^Aff5

المصدر: Human Pathobiochemistry : From Clinical Studies to Molecular Mechanisms. :81-90

المؤلفون: Jameson, Elisabeth, Walter, John H.

المصدر: In Paediatrics and Child Health March 2019 29(3):123-126

المؤلفون: van Spronsen, Francjan J, van Wegberg, Annemiek MJ, Ahring, Kirsten, Bélanger-Quintana, Amaya, Blau, Nenad, Bosch, Annet M, Burlina, Alberto, Campistol, Jaime, Feillet, Francois, Giżewska, Maria, Huijbregts, Stephan C, Kearney, Shauna, Leuzzi, Vincenzo, Maillot, Francois, Muntau, Ania C, Trefz, Fritz K, van Rijn, Margreet, Walter, John H, MacDonald, Anita

المصدر: In The Lancet Diabetes & Endocrinology September 2017 5(9):743-756

المؤلفون: Walter, John H.^Aff4, Lachmann, Robin H.^Aff5, Burgard, Peter^Aff6

المساهمون: Saudubray, Jean-Marie, editor^Aff1, van den Berghe, Georges, editor^Aff2, Walter, John H., editor^Aff3

المصدر: Inborn Metabolic Diseases : Diagnosis and Treatment. :251-264

المؤلفون: Berry, Gerard T.^Aff4, Walter, John H.^Aff5

المساهمون: Saudubray, Jean-Marie, editor^Aff1, van den Berghe, Georges, editor^Aff2, Walter, John H., editor^Aff3

المصدر: Inborn Metabolic Diseases : Diagnosis and Treatment. :141-150

المؤلفون: Walter, John H.^Aff5, Lee, Philip J.^Aff6, Burgard, Peter^Aff7

المساهمون: Fernandes, John, editor^Aff1, Saudubray, Jean-Marie, editor^Aff2, van den Berghe, Georges, editor^Aff3, Walter, John H., editor^Aff4

المصدر: Inborn Metabolic Diseases : Diagnosis and Treatment. :221-232