The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III)

BACKGROUND: Different types of non-hepatorenal tyrosinemia are among the rare forms of tyrosinemia. Tyrosinemia type II and III are autosomal recessive disorders caused by pathogenic variants in the tyrosine aminotransferase (TAT), and 4-hydroxyphenyl-pyruvate dioxygenas (HPPD) genes, respectively....

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Detalles Bibliográficos
Autores principales: Beyzaei, Zahra, Nabavizadeh, Sara, Karimzadeh, Sara, Geramizadeh, Bita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9724276/
https://www.ncbi.nlm.nih.gov/pubmed/36471409
http://dx.doi.org/10.1186/s13023-022-02579-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9724276/
https://www.ncbi.nlm.nih.gov/pubmed/36471409
http://dx.doi.org/10.1186/s13023-022-02579-0

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