Current status of surviving patients with arginase 1 deficiency in Japan
Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD), with an estimated frequency of 1 per 2,200,000 births in Japan. Patients with ARG1 deficiency develop symptoms in late infancy or pre-school age with progressive neurological manifestations and sometimes present with severe hepatic di...
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| Autori principali: | , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2021-12-01
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| Serie: | Molecular Genetics and Metabolism Reports |
| Soggetti: | |
| Accesso online: | http://www.sciencedirect.com/science/article/pii/S2214426921000999 |
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