Disease: Hawkinsinuria
- A sportomics soccer investigation unveils an exercise-induced shift in tyrosine metabolism leading to hawkinsinuria
- Animal models reveal pathophysiologies of tyrosinemias
- Evaluation of comprehensive two-dimensional gas chromatography coupled to time-of-flight mass spectrometry for the diagnosis of inherited metabolic disorders using an automated data processing strategy
- Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine
- Hawkinsinuria
- Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review
- Hawkinsinuria in two families
- Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment
- Hawkinsinuria With Direct Hyperbilirubinemia in Egyptian-Lebanese Boy
- Hawkinsinuria--identification of quinolacetic acid and pyroglutamic acid during an acidotic phase
- Hawkinsinuria: a dominantly inherited defect of tyrosine metabolism with severe effects in infancy
- In-Silico analysis of missense SNPs in Human HPPD gene associated with Tyrosinemia type III and Hawkinsinuria
- Long-term follow up of a new case of hawkinsinuria
- Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III
- Molecular and Evolution <em>In Silico</em> Studies Unlock the h4-HPPD C-Terminal Tail Gating Mechanism
- Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria
- 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
- Qualitative urinary organic acid analysis: 10 years of quality assurance
- Variant analysis of HPD genes from two families showing elevated tyrosine upon newborn screening by tandem mass spectrometry (MS/MS)