Associated Papers
Novel HPD mutation p.A244V compound with p.T219M causing tyrosinemia type III in a Chinese girl and review of the genotype-phenotype spectrum.
Han D et al.
Molecular Genetics & Genomic Medicine, 2024
37817461 (PubMed )
Supplement: MGG3-12-e2298-s002.xlsx › P_LP
The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III).
Beyzaei Z et al.
Orphanet Journal of Rare Diseases, 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
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III.
Item CB et al.
Molecular Genetics and Metabolism, 2007
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.
Rüetschi U et al.
Human Genetics, 2000
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