Identification and Characterization of Novel Variants of Fumarylacetoacetate Hydrolase (FAH) Gene in Clinically Suspected Patients of Tyrosinemia Type 1: Tertiary Care Centre Study of North India.

Quantitative Succinylacetone Measurement by Gas Chromatography-Tandem Mass Spectrometry (GC-MS/MS) Facilitates Diagnosis, Monitoring, and Characterization of Tyrosinemia Type 1 and Other Hypersuccinylacetonemias.

Fusion Peptide-Incorporated Lipid Nanoparticles Boost Endosomal Escape and Enhance Cytosolic mRNA Delivery.

Management of porphyria-like syndrome in tyrosinemia type 1.

Optimizing Peptide Ionizable Lipids Enables Efficient and Low-Toxicity mRNA Delivery for In Vivo Prime Editing and Protein Replacement Therapy.

SIADH as an Underrecognized Manifestation of Porphyria-like Crises in Hereditary Tyrosinemia Type 1: Clinical and Pathophysiological Insights.

Untargeted Metabolomics Reveals Metabolic Reprogramming Linked to HCC Risk in Late Diagnosed Tyrosinemia Type 1.

Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1-A Belgian Monocentric Experience.

In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Features of Corneal Pseudodendritic Lesions in Hereditary Tyrosinemia Type 1.

Neurological crisis in tyrosinemia type 1: Essential roles of replacement therapy and nutrition in multidisciplinary management.

Improved specificity and efficiency of in vivo adenine base editing therapies with hybrid guide RNAs.

Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review.

Hereditary Tyrosinemia Type 1: Success and Challenges in Indian Subcontinent.

Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines.

Nebulized Lipid Nanoparticles Deliver mRNA to the Liver for Treatment of Metabolic Diseases.

Persistent hyperinsulinemic hypoglycemia of infancy treated at the Hospital Infantil de Especialidades de Chihuahua.

Nitisinone desensitization protocol, case report of hereditary Tyrosinemia type 1 with successful treatment and outcomes.

Validation of Clinical-Grade Electroporation Systems for CRISPR-Cas9-Mediated Gene Therapy in Primary Hepatocytes for the Correction of Inherited Metabolic Liver Disease.

Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in The Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone.

Integrating Machine Learning and Follow-Up Variables to Improve Early Detection of Hepatocellular Carcinoma in Tyrosinemia Type 1: A Multicenter Study.

Identification of the Mutations Spectrum in the Fumarylacetoacetate Hydrolase Gene in Tyrosinemia Type 1 Patients in Northeastern Iran.

An Unusual Presentation of Tyrosinemia Type 1 in a Pediatric Patient: Case Report and Comprehensive Review.

Progress in Gene Therapy for Hereditary Tyrosinemia Type 1.

Short and Long-Term Outcomes of Liver Transplantation in Pediatric Patients With Inborn Errors of Metabolism: A Single-Center Study.

Hypophosphatemic Rickets as a Key Sign for the Diagnosis of Hereditary Tyrosinemia Type 1: Case Reports and Narrative Review of the Literature.

Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide.

Oxidative Stress Associated With Increased Reactive Nitrogen Species Generation in the Liver and Kidney Caused by a Major Metabolite Accumulating in Tyrosinemia Type 1.

Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1.

Mutation spectrum of Tyrosinemia type I in Iran, A retrospective cohort study.

In vivo dissection of the mouse tyrosine catabolic pathway with CRISPR-Cas9 identifies modifier genes affecting hereditary tyrosinemia type 1.

A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia.

Hereditary Tyrosinemia Type-1 With Late Presentation: A Case Report.

Consenso mexicano de tirosinemia tipo 1.

Modified by the Innovative Drugs and Strategies-Pattern of Selected Indications for Pediatric Liver Transplantation.

Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4-oxo 6-hydroxyhepanoate (4OHHA), a putative diagnostic biomarker.

Evaluation of surgical strategies and long-term outcomes in pediatric hepatocellular carcinoma.

Ex vivo gene editing and cell therapy for hereditary tyrosinemia type 1.

Decoding hepatorenal tyrosinemia type 1: Unraveling the impact of early detection, NTBC, and the role of liver transplantation.

Clinical Spectrum of Hereditary Tyrosinemia Type 1 in a Cohort of Pakistani Children.

A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood.

A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone.

E. coli´s fight against TYROnny: Designing a bacterial strain to tackle tyrosinemia type 1.

Electronic structure and molecular properties of nitisinone and mesotrione in water.

An engineered Escherichia coli Nissle strain prevents lethal liver injury in a mouse model of tyrosinemia type 1.

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.

A patient with urinary succinylacetone-negative hereditary tyrosinemia type 1.

Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1.

Case report: ADHD and prognosis in tyrosinemia type 1.

Short-term nitisinone discontinuation of hereditary tyrosinemia type 1 mice causes metabolic alterations in glutathione metabolism/biosynthesis and multiple amino acid degradation pathways.

Application of machine learning tools and integrated OMICS for screening and diagnosis of inborn errors of metabolism.

Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype.

Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1.

Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening.

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).

Comprehensive Evaluation of the NeoBase 2 Non-derivatized MSMS Assay and Exploration of Analytes With Significantly Different Concentrations Between Term and Preterm Neonates.

Activation of homology-directed DNA repair plays key role in CRISPR-mediated genome correction.

In vivo lentiviral vector gene therapy to cure hereditary tyrosinemia type 1 and prevent development of precancerous and cancerous lesions.

mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model.

Biochemical and behavioural profile of NTBC treated Tyrosinemie type 1 mice.

A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity.

Liver Transplantation for Tyrosinemia Type 1 in the Developing World: Is It Really the Best We Can Offer?: Authors' Reply.

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.

Liver Transplantation for Tyrosinemia Type 1 in the Developing World: Is It Really the Best We Can Offer?: Correspondence.

Hepatocellular carcinoma requiring liver transplantation in hereditary tyrosinemia type 1 despite nitisinone therapy and α1-fetoprotein normalization.

Tyrosine catabolites influence SKN-1 signaling in a model of Type I Tyrosinemia.

Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias.

Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol.

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Liver Transplantation for Tyrosinemia Type 1 in the Developing World: Is It Really the Best We Can Offer?

Generation of immunodeficient pig with hereditary tyrosinemia type 1 and their preliminary application for humanized liver.

Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant.

Development of Flow Injection Analysis Method for the Second-Tier Estimation of Succinylacetone in Dried Blood Spot of Newborn Screening.

NTBC Treatment Monitoring in Chilean Patients with Tyrosinemia Type 1 and Its Association with Biochemical Parameters and Liver Biomarkers.

Hereditary Tyrosinemia Type 1 in Jordan: A Retrospective Study.

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.

Evaluation of dynamic thiol/disulfide homeostasis in hereditary tyrosinemia type 1 patients.

Casein Glycomacropeptide: An Alternative Protein Substitute in Tyrosinemia Type I.

Nitisinone treatment during two pregnancies and breastfeeding in a woman with tyrosinemia type 1 - a case report.

Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review.

Liver Transplantation: A Safe and Definitive Alternative to Lifelong Nitisinone for Tyrosinemia Type 1.

Influence of nitisinone and its metabolites on l-tyrosine metabolism in a model system.

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.

Treatment adherence in tyrosinemia type 1 patients.

Adenine base editing and prime editing of chemically derived hepatic progenitors rescue genetic liver disease.

Tyrosinemia type 1 in pediatric nephrology: Not always straightforward.

Outcome of Tyrosinemia Type 1 in Indian Children.

Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1.

Oxidative Stress, Glutathione Metabolism, and Liver Regeneration Pathways Are Activated in Hereditary Tyrosinemia Type 1 Mice upon Short-Term Nitisinone Discontinuation.

Hereditary Tyrosinemia Compounded With Hyperinsulinemic Hypoglycemia: Challenging Diagnosis of a Rare Case.

Case report: Maternal tyrosinemia type 1a under NTBC treatment with tyrosine- and phenylalanine restricted diet in Chile.

Hepatocellular neoplasms arising in genetic metabolic disorders: steatosis is common in both the tumor and background liver.

The future of gene-targeted therapy for hereditary tyrosinemia type 1 as a lead indication among the inborn errors of metabolism.

Base editing: a brief review and a practical example.

Ex Vivo Cell Therapy by Ectopic Hepatocyte Transplantation Treats the Porcine Tyrosinemia Model of Acute Liver Failure.

The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening.

Severe neurological crisis in adult patients with Tyrosinemia type 1.

Induced Liver Regeneration Enhances CRISPR/Cas9-Mediated Gene Repair in Tyrosinemia Type 1.

Aspartame and Phe-Containing Degradation Products in Soft Drinks across Europe.

Laboratory monitoring of patients with hereditary tyrosinemia type I.

Amelioration of an Inherited Metabolic Liver Disease through Creation of a De Novo Start Codon by Cytidine Base Editing.

Inter-laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples.

Dried blood spot versus venous blood sampling for phenylalanine and tyrosine.

Late Development of Hepatocellular Carcinoma in Tyrosinemia Type 1 Despite Nitisinone (NTBC) Treatment.

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.

The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients.

Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1.

Tyrosinemia Type 1 and symptoms of ADHD: Biochemical mechanisms and implications for treatment and prognosis.

Blood and Brain Biochemistry and Behaviour in NTBC and Dietary Treated Tyrosinemia Type 1 Mice.

Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected in Pakistani Cohorts.

A robust bacterial assay for high-throughput screening of human 4-hydroxyphenylpyruvate dioxygenase inhibitors.

Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.

Heme as an initial treatment for severe decompensation in tyrosinemia type 1.

Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant.

Revisiting hereditary tyrosinemia Type 1-spectrum of radiological findings.

Biomarkers of Micronutrients in Regular Follow-Up for Tyrosinemia Type 1 and Phenylketonuria Patients.

Validation of a therapeutic range for nitisinone in patients treated for tyrosinemia type 1 based on reduction of succinylacetone excretion.

Interference of hydroxyphenylpyruvic acid, hydroxyphenyllactic acid and tyrosine on routine serum and urine clinical chemistry assays; implications for biochemical monitoring of patients with alkaptonuria treated with nitisinone.

Imaging liver nodules in tyrosinemia type-1: A retrospective review of 16 cases in a tertiary pediatric hospital.

Ex Vivo Hepatocyte Reprograming Promotes Homology-Directed DNA Repair to Correct Metabolic Disease in Mice After Transplantation.

Presence of three mutations in the fumarylacetoacetate hydrolase gene in a patient with atypical symptoms of hereditary tyrosinemia type I.

Hepatotoxicity and Toxicology of In Vivo Lentiviral Vector Administration in Healthy and Liver-Injury Mouse Models.

Medical care of patients with disorders of aromatic amino acid metabolism: a report based on the Polish National Health Fund data records.

Diagnosis and the importance of early treatment of tyrosinemia type 1: A case report.

Gene Editing Successfully Corrects 2 Amino Acid Disorders: In 2 preclinical studies using CRISPR-mediated gene editing, phenylketonuria and hereditary tyrosinemia type 1 were corrected.

Autologous Gene and Cell Therapy Provides Safe and Long-Term Curative Therapy in A Large Pig Model of Hereditary Tyrosinemia Type 1.

Non randomized study on the potential of nitisinone to inhibit cytochrome P450 2C9, 2D6, 2E1 and the organic anion transporters OAT1 and OAT3 in healthy volunteers.

The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation.

Discontinuation of NTBC after liver transplantation in tyrosinemia type 1.

Dendrimer-Based Lipid Nanoparticles Deliver Therapeutic FAH mRNA to Normalize Liver Function and Extend Survival in a Mouse Model of Hepatorenal Tyrosinemia Type I.

In utero CRISPR-mediated therapeutic editing of metabolic genes.

Curative Ex Vivo Hepatocyte-Directed Gene Editing in a Mouse Model of Hereditary Tyrosinemia Type 1.

Nuclease-Mediated Gene Therapies for Inherited Metabolic Diseases of the Liver.

Neurological Crises after Discontinuation of Nitisinone (NTBC) Treatment in Tyrosinemia.

Simultaneous quantification of succinylacetone and nitisinone for therapeutic drug monitoring in the treatment of Tyrosinemia type 1.

Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day.

Caregiver Quality of Life with Tyrosinemia Type 1.

Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1.

Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review.

Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1).

Hereditary Tyrosinemia Type 1 in Turkey.

Liver Cancer in Tyrosinemia Type 1.

NTBC and Correction of Renal Dysfunction.

The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec.

Molecular Pathogenesis of Liver Injury in Hereditary Tyrosinemia 1.

Molecular Aspects of the FAH Mutations Involved in HT1 Disease.

Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1.

Comparison of a full systematic review versus rapid review approaches to assess a newborn screening test for tyrosinemia type 1.

Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1.

[Acute liver failure related to inherited metabolic diseases in young children].

Case of hepatocellular carcinoma in a patient with hereditary tyrosinemia in the post-newborn screening era.

Long-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted diet.

Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.

What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?

Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.

Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1.

Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.

Chronic Phenotype Characterization of a Large-Animal Model of Hereditary Tyrosinemia Type 1.

Pediatric hepatocellular carcinoma in a developing country: Is the etiology changing?

The outcome of seven patients with hereditary tyrosinemia type 1.

A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report.

Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1.

Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls.

Identification of circulating microRNAs during the liver neoplastic process in a murine model of hereditary tyrosinemia type 1.

Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone.

Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing.

An unfortunate challenge: Ketogenic diet for the treatment of Lennox-Gastaut syndrome in tyrosinemia type 1.

Iron overload in hereditary tyrosinemia type 1 induces liver injury through the Sp1/Tfr2/hepcidin axis.

[Pharmacological and clinical profile of nitisinone (Orfadin(®) Capsules): a therapeutic agent for hereditary tyrosinemia type 1].

Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.

Sustained NRF2 activation in hereditary leiomyomatosis and renal cell cancer (HLRCC) and in hereditary tyrosinemia type 1 (HT1).

Molecular changes associated with chronic liver damage and neoplastic lesions in a murine model of hereditary tyrosinemia type 1.

The Inhibitory Activity of Plants from Central Argentina on p-Hydroxyphenylpyruvate Dioxygenase. Isolation and Mechanism of Inhibition of a Flavanone from Flourensia oolepis.

Clinical and Biochemical Profile of Tyrosinemia Type 1 in Tunisia.

Inherited metabolic disorders presenting as acute liver failure in newborns and young children: King's College Hospital experience.

Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.

Hepatocellular carcinoma in tyrosinemia type 1 without clear increase of AFP.