Adult Presentation of Ornithine Transcarbamylase Deficiency: 2 Illustrative Cases of Phenotypic Variability and Literature Review

Ornithine transcarbamylase (OTC) deficiency is an X-linked recessive disorder that usually presents in the neonatal period. Late-onset presentation of OTC can cause mild to severe symptoms. We describe laboratory and clinical findings of late-onset presentations of OTC deficiency. We conducted a lit...

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Detalles Bibliográficos
Publicado en:Neurohospitalist
Main Authors: Pizzi, Michael A., Alejos, David, Hasan, Tasneem F., Atwal, Paldeep S., Krishnaiengar, Suparna R., Freeman, William D.
Formato: Artigo
Idioma:Inglês
Publicado: SAGE Publications 2018
Assuntos:
Case Reports
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6327241/
https://ncbi.nlm.nih.gov/pubmed/30671162
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/1941874418764817
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