• A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia
• A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity
• A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone
• 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
• Activation of homology-directed DNA repair plays key role in CRISPR-mediated genome correction
• Adenine base editing and prime editing of chemically derived hepatic progenitors rescue genetic liver disease
• 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
• 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
• Bilateral recurrent pseudodendritic keratopathy as the initial manifestation of tyrosinemia type II
• Biochemical and behavioural profile of NTBC treated Tyrosinemie type 1 mice
• Case report: ADHD and prognosis in tyrosinemia type 1
• Casein Glycomacropeptide: An Alternative Protein Substitute in Tyrosinemia Type I
• Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias
• Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (<em>FAH</em>) intronic disease-causing variant
• Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant
• 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 Spectrum of Hereditary Tyrosinemia Type 1 in a Cohort of Pakistani Children
• 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
• 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
• Decoding hepatorenal tyrosinemia type 1: Unraveling the impact of early detection, NTBC, and the role of liver transplantation
• Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria
• Development of Flow Injection Analysis Method for the Second-Tier Estimation of Succinylacetone in Dried Blood Spot of Newborn Screening
• Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
• Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review
• 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
• Efficient expansion and CRISPR-Cas9-mediated gene correction of patient-derived hepatocytes for treatment of inherited liver diseases
• Electronic structure and molecular properties of nitisinone and mesotrione in water
• 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
• Evaluation of surgical strategies and long-term outcomes in pediatric hepatocellular carcinoma
• Ex vivo gene editing and cell therapy for hereditary tyrosinemia type 1
• Family planning decisional needs assessment for recessive hereditary disorders: Insights from carrier couples and professionals
• Fumarylacetoacetate hydrolase gene as a knockout target for hepatic chimerism and donor liver production
• Generation of an induced pluripotent stem cell line SDQLCHi026-A from a hereditary tyrosinemia type I patient carrying compound heterozygote mutations in FAH gene
• Generation of immunodeficient pig with hereditary tyrosinemia type 1 and their preliminary application for humanized liver
• Hepatocellular carcinoma requiring liver transplantation in hereditary tyrosinemia type 1 despite nitisinone therapy and alpha1-fetoprotein normalization
• Hepatocellular carcinoma requiring liver transplantation in hereditary tyrosinemia type 1 despite nitisinone therapy and α1-fetoprotein normalization
• Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4-oxo 6-hydroxyhepanoate (4OHHA), a putative diagnostic biomarker
• Hereditary Tyrosinemia Type 1 in Jordan: A Retrospective Study
• 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
• Hereditary Tyrosinemia Type-1 With Late Presentation: A Case Report
• 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
• Improved specificity and efficacy of base-editing therapies with hybrid guide RNAs
• In vivo dissection of the mouse tyrosine catabolic pathway with CRISPR-Cas9 identifies modifier genes affecting hereditary tyrosinemia type 1
• In vivo lentiviral vector gene therapy to cure hereditary tyrosinemia type 1 and prevent development of precancerous and cancerous lesions
• Influence of nitisinone and its metabolites on l-tyrosine metabolism in a model system
• Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening
• 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
• Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study
• Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1
• Modified by the Innovative Drugs and Strategies-Pattern of Selected Indications for Pediatric Liver Transplantation
• mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model
• 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
• Nitisinone
• 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
• NTBC Treatment Monitoring in Chilean Patients with Tyrosinemia Type 1 and Its Association with Biochemical Parameters and Liver Biomarkers
• Nutritional interventions for patients with alkaptonuria: A minireview
• Outcome of Tyrosinemia Type 1 in Indian Children
• Physical Growth of Patients with Hereditary Tyrosinaemia Type I: A Single-Centre Retrospective Study
• Revitalizing liver function in mice with liver failure through transplantation of 3D-bioprinted liver with expanded primary hepatocytes
• Self-inactivating, all-in-one AAV vectors for precision Cas9 genome editing via homology-directed repair in vivo
• Short-term nitisinone discontinuation of hereditary tyrosinemia type 1 mice causes metabolic alterations in glutathione metabolism/biosynthesis and multiple amino acid degradation pathways
• 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 clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series
• The compound heterozygous mutations of c.607G&gt;a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1)
• 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)
• Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I
• Treatment adherence in tyrosinemia type 1 patients
• Tyrosine catabolites influence SKN-1 signaling in a model of Type I Tyrosinemia
• Tyrosinemia type 1 in pediatric nephrology: Not always straightforward
• 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