DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings

BACKGROUND: DNAJC12 co-chaperone protein deficiency has been recently described as a stand-alone metabolic disorder explaining many cases of mild hyperphenylalaninemia (HPA) that are not caused by variants in the PAH gene, which encodes for the hepatic enzyme phenylalanine hydroxylase (PAH), or inGC...

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Detalles Bibliográficos
Autores principales: Fino, Edoardo, Barbato, Alessandro, Scaturro, Giusi M., Procopio, Elena, Balestrini, Simona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694740/
http://dx.doi.org/10.1016/j.ymgmr.2023.101008

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694740/
http://dx.doi.org/10.1016/j.ymgmr.2023.101008

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