Benefits of tailored disease management in improving tremor, white matter hyperintensities, and liver enzymes in a child with heterozygous X-linked ornithine transcarbamylase deficiency()

We report the case of a 19-month-old girl with late-onset ornithine transcarbamylase (OTC) deficiency initially referred to gastroenterology for intermittent vomiting lasting a year and abnormal liver enzymes (AST 730 U/L [reference range 26–55 U/L]; ALT 1213 U/L [reference range 11–30 U/L]) without...

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Detalles Bibliográficos
Autores principales: Andrews, Ashley, Roberts, Sarah, Botto, Lorenzo D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9817482/
https://www.ncbi.nlm.nih.gov/pubmed/36620387
http://dx.doi.org/10.1016/j.ymgmr.2022.100891

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