المؤلفون: Seidl, Marie J., Scharre, Svenja, Posset, Roland, Druck, Ann-Catrin, Epp, Friederike, Okun, Jürgen G., Dimitrov, Bianca, Hoffmann, Georg F., Kölker, Stefan, Zielonka, Matthias

المصدر: In Molecular Genetics and Metabolism January 2024 141(1)

المؤلفون: Scharre, Svenja, Posset, Roland, Garbade, Sven F., Gleich, Florian, Seidl, Marie J., Druck, Ann‐Catrin, Okun, Jürgen G., Gropman, Andrea L., Nagamani, Sandesh C. S., Hoffmann, Georg F., Kölker, Stefan, Zielonka, Matthias, Ah Mew, Nicholas, Baumgartner, Matthias R., Berry, Gerard T., Berry, Susan A., Burrage, Lindsay, Diaz, George A., Ficicioglu, Can, Kisin, Genya, Konczal, Laura, Lam, Christina, McCandless, Shawn E., Merritt, J. Lawrence, Schulze, Andreas, Walter, Magdalena E., Wilson, Ashley, Wong, Derek, Arnaudo, Florence, Augoustides‐ Savvopoulou, Persephone, Barić, Ivo, Bosch, Annet M., Cano, Aline, Chien, Yin‐Hsiu, Dionisi‐Vici, Carlo, Dobbelaere, Dries, Eyskens, Francois, Freisinger, Peter, Garcia‐Cazorla, Angeles, Honzik, Tomas, Karall, Daniela, Lund, Allan M., Murphy, Elaine, Santer, René, Schiff, Manuel, Skouma, Anastasia, Sykut‐Cegielska, Jolanta, Wijburg, Frits A., Zeman, Jiri, for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group

المساهمون: VU University medical center, Paediatric Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development

المصدر: Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group 2022, ' Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency ', Annals of Clinical and Translational Neurology, vol. 9, no. 11, pp. 1715-1726 . https://doi.org/10.1002/acn3.51668
Annals of Clinical and Translational Neurology, 9(11), 1715-1726. John Wiley and Sons Ltd
Annals of clinical and translational neurology, 9(11), 1715-1726. John Wiley and Sons Ltd

مصطلحات موضوعية: Male, Phenotype, ornithine transcarbamylase deficiency, disease severity, prediction, General Neuroscience, Humans, Hyperammonemia, Neurology (clinical), Severity of Illness Index, Ornithine Carbamoyltransferase Deficiency Disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::390aa51c5c603b0a10455b804fb5190e
https://doi.org/10.1002/acn3.51668