Argininemia: Pathophysiology and Novel Methods for Evaluation of the Disease
Argininemia: Pathophysiology and Novel Methods for Evaluation of the Disease
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Publisher
Basel: MDPI AG
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Language
English
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Publisher
Basel: MDPI AG
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Scope and Contents
Contents
Argininemia or arginase-1 deficiency constitutes a rare, genetic, metabolic disorder caused by mutations in arginase 1—the last enzyme of the urea cycle—that hydrolyses L-arginine to ornithine and urea. The disease is associated with progressive development of spasticity and other symptoms, including seizures, developmental delay, cognitive impairm...
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Full title
Argininemia: Pathophysiology and Novel Methods for Evaluation of the Disease
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TN_cdi_doaj_primary_oai_doaj_org_article_b342251f31dc45e8b9c7cfa641bb13cd
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_b342251f31dc45e8b9c7cfa641bb13cd
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ISSN
2076-3417
E-ISSN
2076-3417
DOI
10.3390/app14041647
