Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency

Background 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 to add to our understanding of the unde...

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Veröffentlicht in:	Journal of inherited metabolic disease 2016-05, Vol.39 (3), p.331-340
Hauptverfasser:	Huemer, Martina, Carvalho, Daniel R., Brum, Jaime M., Ünal, Özlem, Coskun, Turgay, Weisfeld-Adams, James D., Schrager, Nina L., Scholl-Bürgi, Sabine, Schlune, Andrea, Donner, Markus G., Hersberger, Martin, Gemperle, Claudio, Riesner, Brunhilde, Ulmer, Hanno, Häberle, Johannes, Karall, Daniela
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Amino Acids - blood Arginase - genetics Arginase - metabolism Arginine - analogs & derivatives Arginine - metabolism Biochemistry Case-Control Studies Child Child, Preschool Female Glycine - analogs & derivatives Glycine - blood Human Genetics Humans Infant Internal Medicine Male Medicine Medicine & Public Health Metabolic Diseases Middle Aged Nitric Oxide - metabolism Nitric Oxide Synthase Type II - metabolism Nitric Oxide Synthase Type III - metabolism Original Article Oxidative Stress - physiology Pediatrics Phenotype Retrospective Studies Urea Cycle Disorders, Inborn - blood Urea Cycle Disorders, Inborn - genetics Urea Cycle Disorders, Inborn - metabolism Young Adult
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