• A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I
• 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
• A split prime editor with untethered reverse transcriptase and circular RNA template
• Adenine base editing in an adult mouse model of tyrosinaemia
• ADHD symptoms in neurometabolic diseases: Underlying mechanisms and clinical implications
• Adult female with severe decompensation of tyrosinaemia type 1 that responds to heme treatment
• Alkaptonuria - Past, present and future
• Amelioration of an Inherited Metabolic Liver Disease through Creation of a De Novo Start Codon by Cytidine Base Editing
• 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
• An overview on medicinal perspective of thiazolidine-2,4-dione: A remarkable scaffold in the treatment of type 2 diabetes
• Application of machine learning tools and integrated OMICS for screening and diagnosis of inborn errors of metabolism
• Bilateral dendriform ulcer leading to an early diagnosis of tyrosinemia type 2
• Bilateral recurrent pseudodendritic keratopathy as the initial manifestation of tyrosinemia type II
• Biochemical and behavioural profile of NTBC treated Tyrosinemie type 1 mice
• Case 2: A 2-month-old Girl with Liver Failure and a Brother with Tyrosinemia Type I
• Case report: Maternal tyrosinemia type 1a under NTBC treatment with tyrosine- and phenylalanine restricted diet in Chile
• Casein Glycomacropeptide: An Alternative Protein Substitute in Tyrosinemia Type I
• Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias
• Clinical experience with hepatorenal tyrosinemia from a single Egyptian center
• Clinical features and genetic analysis of a child with acute form of Tyrosinemia type I due to a novel variant of FAH gene
• Clinical utilization of dried blood spot nitisinone (NTBC) and succinylacetone (SA) concentrations in hereditary tyrosinaemia type 1 - A UK centre experience
• Comprehensive Evaluation of the NeoBase 2 Non-derivatized MSMS Assay and Exploration of Analytes With Significantly Different Concentrations Between Term and Preterm Neonates
• Consenso mexicano de tirosinemia tipo 1
• Corneal Crystals in Patients With Tyrosinemia Types I and II
• Correcting tyrosinaemia via a point mutation
• CRISPR/Cas9-Mediated Gene Correction in Newborn Rabbits with Hereditary Tyrosinemia Type I
• 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
• Effects of omega-3 fatty acids supplementation on inflammatory parameters after chronic administration of L-tyrosine
• Efficient expansion and CRISPR-Cas9-mediated gene correction of patient-derived hepatocytes for treatment of inherited liver diseases
• Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients
• Emotional and behavioural functioning in children with tyrosinaemia 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
• Evaluation of dynamic thiol/disulfide homeostasis in hereditary tyrosinemia type 1 patients
• Ex vivo gene editing and cell therapy for hereditary tyrosinemia type 1
• Exploring the therapeutic potential of modern and ancestral phenylalanine/tyrosine ammonia-lyases as supplementary treatment of hereditary tyrosinemia
• Familial Richner-Hanhart syndrome: Report of a sibling with incomplete presentation
• First Scandinavian case of successful pregnancy during nitisinone treatment for type 1 tyrosinemia
• Generation of an induced pluripotent stem cell line SDQLCHi026-A from a hereditary tyrosinemia type I patient carrying compound heterozygote mutations in FAH gene
• Hepatocellular carcinoma requiring liver transplantation in hereditary tyrosinemia type 1 despite nitisinone therapy and α1-fetoprotein normalization
• Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome
• Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype
• Hereditary tyrosinemia type Ⅰ: newborn screening, diagnosis and treatment
• Hypertyrosinemia
• Hypertyrosinemia
• Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1
• In vivo lentiviral vector gene therapy to cure hereditary tyrosinemia type 1 and prevent development of precancerous and cancerous lesions
• Induced Liver Regeneration Enhances CRISPR/Cas9-Mediated Gene Repair in Tyrosinemia Type 1
• Laboratory monitoring of patients with hereditary tyrosinemia type I
• Late Development of Hepatocellular Carcinoma in Tyrosinemia Type 1 Despite Nitisinone (NTBC) Treatment
• Liver Transplantation for Tyrosinemia Type 1 in the Developing World: Is It Really the Best We Can Offer?
• Liver Transplantation for Tyrosinemia Type 1 in the Developing World: Is It Really the Best We Can Offer?: Authors' Reply
• Liver Transplantation for Tyrosinemia Type 1 in the Developing World: Is It Really the Best We Can Offer?: Correspondence
• Liver Transplantation: A Safe and Definitive Alternative to Lifelong Nitisinone for Tyrosinemia Type 1
• Living-donor liver transplantation for children with tyrosinemia type I
• Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1
• Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study
• Loss of mitochondrial enzyme GPT2 causes early neurodegeneration in locus coeruleus
• Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1
• Mitochondrial DNA Depletion Syndrome: Mimicker for Hereditary Tyrosinemia
• Modified by the Innovative Drugs and Strategies-Pattern of Selected Indications for Pediatric Liver Transplantation
• Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1
• Neonatal hyperinsulinism in transient and classical forms of tyrosinemia
• Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
• Nitisinone treatment during two pregnancies and breastfeeding in a woman with tyrosinemia type 1 - a case report
• Nitisinone: two decades treating hereditary tyrosinaemia 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
• Oxidative Stress, Glutathione Metabolism, and Liver Regeneration Pathways Are Activated in Hereditary Tyrosinemia Type 1 Mice upon Short-Term Nitisinone Discontinuation
• Phenylalanine suppresses cell death caused by loss of fumarylacetoacetate hydrolase in Arabidopsis
• Physical Growth of Patients with Hereditary Tyrosinaemia Type I: A Single-Centre Retrospective Study
• Protein Degradation and the Pathologic Basis of Phenylketonuria and Hereditary Tyrosinemia
• Revitalizing liver function in mice with liver failure through transplantation of 3D-bioprinted liver with expanded primary hepatocytes
• Screening for hereditary tyrosinemia and genotype analysis in newborns
• Self-inactivating, all-in-one AAV vectors for precision Cas9 genome editing via homology-directed repair in vivo
• Severe neurological crisis in adult patients with Tyrosinemia type 1
• Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol
• Structure-based discovery of pyrazole-benzothiadiazole hybrid as human HPPD inhibitors
• Syndrome of Inappropriate Antidiuretic Hormone Secretion in a Patient with Uncontrolled Tyrosinaemia Type 1
• 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 Dynamic Chromatin Architecture of the Regenerating Liver
• The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients
• 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)
• Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I
• Treatment adherence in tyrosinemia type 1 patients
• Type 1 tyrosinemia in Finland: a nationwide study
• Tyrosinemia Type 1 and symptoms of ADHD: Biochemical mechanisms and implications for treatment and prognosis
• Tyrosinemia type 1 in pediatric nephrology: Not always straightforward
• TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW
• UK Dietary Practices for Tyrosinaemias: Time for Change
• UK should screen for tyrosinaemia in newborn babies, committee recommends
• Update on pathogenesis, diagnosis and treatment of hereditary tyrosinemia type Ⅰ
• Vanadium: Risks and possible benefits in the light of a comprehensive overview of its pharmacotoxicological mechanisms and multi-applications with a summary of further research trends
• Variant analysis of HPD genes from two families showing elevated tyrosine upon newborn screening by tandem mass spectrometry (MS/MS)