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pro vyhledávání: '"Brunhilde Riesner"'
Autor:
Nina L. Schrager, Brunhilde Riesner, Markus G. Donner, Hanno Ulmer, Jaime M. Brum, Turgay Coşkun, Özlem Ünal, Andrea Schlune, Johannes Häberle, James D. Weisfeld-Adams, Sabine Scholl-Bürgi, Martina Huemer, Daniel R. Carvalho, Claudio Gemperle, Daniela Karall, Martin Hersberger
Publikováno v:
Journal of inherited metabolic disease
Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD). This hypothesis-generating study explored clinical phenotypes, metabolic profiles, molecular genetics, and treatment approaches in a cohort of children and adults with ARG1 deficiency