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Late‐onset ornithine transcarbamylase deficiency: a rare cause of recurrent abnormal behavior in adults

BACKGROUND: Ornithine transcarbamylase is an enzyme of the urea cycle, which produces urea from ammonia. Although ornithine transcarbamylase deficiency mainly occurs as a severe neonatal‐onset disease, a late‐onset form that could become symptomatic from infancy to adulthood is also known. CASE PRES...

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Detalles Bibliográficos
Autores principales: Hidaka, Masaoki, Higashi, Eiji, Uwatoko, Takeshi, Uwatoko, Kiku, Urashima, Mayumi, Takashima, Hiroshi, Watanabe, Yoriko, Kitazono, Takanari, Sugimori, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507316/
https://www.ncbi.nlm.nih.gov/pubmed/32995020
http://dx.doi.org/10.1002/ams2.565