A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation

Tyrosinemia type III is an autosomal recessive disorder caused by the deficiency of 4- hydroxyphenylpyruvate dioxygenase (4-HPPD). It is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into the urine. Clinical findings of tyrosinemia type III include neuro...

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Detalles Bibliográficos
Autores principales: Najafi, Reza, Mostofizadeh, Neda, Hashemipour, Mahin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812087/
https://www.ncbi.nlm.nih.gov/pubmed/29456978
http://dx.doi.org/10.4103/2277-9175.223740

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812087/
https://www.ncbi.nlm.nih.gov/pubmed/29456978
http://dx.doi.org/10.4103/2277-9175.223740

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