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
Mendelian inheritance revisited: dominance and recessiveness in medical genetics.
Zschocke J et al.
Nature Reviews. Genetics, 2023
Functional role of residues involved in substrate binding of human 4-hydroxyphenylpyruvate dioxygenase.
Huang CW et al.
The Biochemical Journal, 2021
Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review.
Cruz-Camino H et al.
The Journal of International Medical Research, 2020
Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine.
Gomez-Ospina N et al.
Journal of Inherited Metabolic Disease, 2016
Product analysis and inhibition studies of a causative Asn to Ser variant of 4-hydroxyphenylpyruvate dioxygenase suggest a simple route to the treatment of Hawkinsinuria.
Brownlee JM et al.
Biochemistry, 2010
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III.
Item CB et al.
Molecular Genetics and Metabolism, 2007
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