Disease: Oculocutaneous tyrosinemia
- A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood
- A patient with urinary succinylacetone-negative hereditary tyrosinemia type 1
- Adult female with severe decompensation of tyrosinaemia type 1 that responds to heme treatment
- Alkaptonuria - Past, present and future
- An engineered Escherichia coli Nissle strain prevents lethal liver injury in a mouse model of tyrosinemia type 1
- An Infant with Bilateral Keratitis: From Infectious to Genetic Diagnosis
- Application of machine learning tools and integrated OMICS for screening and diagnosis of inborn errors of metabolism
- Clinical features and genetic analysis of a child with acute form of Tyrosinemia type I due to a novel variant of FAH gene
- Comprehensive Evaluation of the NeoBase 2 Non-derivatized MSMS Assay and Exploration of Analytes With Significantly Different Concentrations Between Term and Preterm Neonates
- Corneal Crystals in Patients With Tyrosinemia Types I and II
- Current Landscape on Development of Phenylalanine and Toxicity of its Metabolites - A Review
- Current Landscape on Development of Phenylalanine and Toxicity of its Metabolites- A Review
- Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria
- E. coli´s fight against TYROnny: Designing a bacterial strain to tackle tyrosinemia type 1
- E. colis fight against TYROnny: Designing a bacterial strain to tackle tyrosinemia type 1
- Engineering a transposon-associated TnpB-ωRNA system for efficient gene editing and phenotypic correction of a tyrosinaemia mouse model
- Evaluation of a New 'Mix-In' Style Glycomacropeptide-Based Protein Substitute for Food and Drinks in Patients with Phenylketonuria and Tyrosinemia
- Ex vivo gene editing and cell therapy for hereditary tyrosinemia type 1
- From skin lesions to tyrosinemia type II diagnosis
- Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype
- Hypertyrosinemia
- Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1
- Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1
- Novel HPD mutation p.A244V compound with p.T219M causing tyrosinemia type III in a Chinese girl and review of the genotype-phenotype spectrum
- Nutritional interventions for patients with alkaptonuria: A minireview
- Structure-based discovery of pyrazole-benzothiadiazole hybrid as human HPPD inhibitors
- The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1)
- The effects of phenylalanine and tyrosine levels on dopamine production in rat PC12 cells. Implications for treatment of phenylketonuria, tyrosinemia type 1 and comorbid neurodevelopmental disorders
- The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III)
- UK Dietary Practices for Tyrosinaemias: Time for Change
- UK should screen for tyrosinaemia in newborn babies, committee recommends