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Last Updated: 10/31/2025
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Found 13 publications
Novel HPD mutation p.A244V compound with p.T219M causing tyrosinemia type III in a Chinese girl and review of the genotype-phenotype spectrum.
Journal: Molecular genetics & genomic medicine
Published: June 16, 2023
Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases.
Journal: Molecular syndromology
Published: April 09, 2021
TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW.
Journal: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
Published: August 17, 2018
Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III.
Journal: Cognitive neuropsychology
Published: May 10, 2018
In-Silico analysis of missense SNPs in Human HPPD gene associated with Tyrosinemia type III and Hawkinsinuria.
Journal: Computational biology and chemistry
Published: March 24, 2018
A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation.
Journal: Advanced biomedical research
Published: February 20, 2018
Tyrosinemia type III in an asymptomatic girl.
Journal: Molecular genetics and metabolism reports
Published: September 10, 2015
Tyrosinemia Type III detected via neonatal screening: management and outcome.
Journal: Molecular genetics and metabolism
Published: July 28, 2012
Increased nitric oxide release by neutrophils of a patient with tyrosinemia type III.
Journal: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
Published: June 04, 2008
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria.
Journal: Molecular genetics and metabolism
Published: November 14, 2000
Last Updated: 10/31/2025