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

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

Abstract 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, respec...

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Bibliographic Details
Main Authors: Zahra Beyzaei, Sara Nabavizadeh, Sara Karimzadeh, Bita Geramizadeh
Format: Article
Language:English
Published: BMC 2022-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Tyrosinemia
Genotype
Mutations
Tyrosine aminotransferase
4-Hydroxyphenylpyruvate dioxygenase
Online Access:https://doi.org/10.1186/s13023-022-02579-0

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