Associated Papers
The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III).
Beyzaei Z et al.
Orphanet Journal of Rare Diseases, 2022
The Human Glyoxalase Gene Family in Health and Disease.
Farrera DO et al.
Chemical Research in Toxicology, 2022
Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases.
Kahraman AB et al.
Molecular Syndromology, 2022
TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW.
Barroso F et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo, 2020
Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment.
Thodi G et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III.
Item CB et al.
Molecular Genetics and Metabolism, 2007
Outcome of tyrosinaemia type III.
Ellaway CJ et al.
Journal of Inherited Metabolic Disease, 2001
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria.
Tomoeda K et al.
Molecular Genetics and Metabolism, 2000
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