Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation

Ornithine transcarbamylase (OTC) deficiency (OTCD) is an X-linked urea cycle disorder. In females - undergoing random X chromosomal inactivation (XCI) - disease severity depends on the XCI pattern. Hence, female OTCD subjects with favorable XCI display normal OTC expression and activity and are heal...

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Detalles Bibliográficos
Autores principales: Ramosaj, Adhuresa, Singhal, Palak, Schaller, André, Laemmle, Alexander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694731/
http://dx.doi.org/10.1016/j.ymgmr.2023.101007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694731/
http://dx.doi.org/10.1016/j.ymgmr.2023.101007

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