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Late-Onset Ornithine Transcarbamylase Deficiency Complicated with Extremely High Serum Ammonia Level: Prompt Induction of Hemodialysis as the Key to Successful Treatment

Patient: Male, 35-year-old Final Diagnosis: Late-onset ornithine transcarbamylase deficiency Symptoms: Disturbance of consciousness • headache • vomiting Medication: — Clinical Procedure: Genetic analysis Specialty: Genetics • Metabolic Disorders and Diabetics OBJECTIVE: Rare disease BACKGROUND: Orn...

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Detalles Bibliográficos
Autores principales: Yamamoto, Satsuki, Yamashita, Shun, Kakiuchi, Toshihiko, Kurogi, Kazuya, Nishi, Tomoyo M., Tago, Masaki, Yamashita, Shu-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9676062/
https://www.ncbi.nlm.nih.gov/pubmed/36377209
http://dx.doi.org/10.12659/AJCR.937658