Tyrosinemia Type 1 Latest Advances

A Diagnostic Dilemma: Hypophosphatemic Rickets Unmasking Tyrosinemia Type 1: A Case Report.

Journal: Clinical case reports

Published: July 01, 2026

Engineering the gut as an auxiliary tyrosine disposal unit in hereditary tyrosinemia type 1.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: June 29, 2026

An optimized engineered bacterium for tyrosinemia type 1 therapy: A multi-species preclinical study.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: January 07, 2026

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

Journal: The American journal of case reports

Published: December 27, 2025

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

Journal: International journal of molecular sciences

Published: December 20, 2025

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

Journal: Metabolites

Published: November 24, 2025

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

Journal: JIMD reports

Published: October 29, 2025

Correction: Kuypers et al. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. Int. J. Neonatal Screen. 2024, 10, 82.

Journal: International journal of neonatal screening

Published: June 27, 2025

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

Journal: Journal of inherited metabolic disease

Published: June 24, 2025

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

Journal: Indian pediatrics

Published: June 16, 2025

Management of porphyria-like syndrome in tyrosinemia type 1.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: June 03, 2025

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

Journal: International journal of neonatal screening

Published: April 09, 2025

Tyrosinemia Type 1 Latest Advances

Find the Latest Research About Tyrosinemia Type 1

A Diagnostic Dilemma: Hypophosphatemic Rickets Unmasking Tyrosinemia Type 1: A Case Report.

A Diagnostic Dilemma: Hypophosphatemic Rickets Unmasking Tyrosinemia Type 1: A Case Report.

Engineering the gut as an auxiliary tyrosine disposal unit in hereditary tyrosinemia type 1.

Engineering the gut as an auxiliary tyrosine disposal unit in hereditary tyrosinemia type 1.

An optimized engineered bacterium for tyrosinemia type 1 therapy: A multi-species preclinical study.

An optimized engineered bacterium for tyrosinemia type 1 therapy: A multi-species preclinical study.

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

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

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

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.

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

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

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

Correction: Kuypers et al. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. Int. J. Neonatal Screen. 2024, 10, 82.

Correction: Kuypers et al. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. Int. J. Neonatal Screen. 2024, 10, 82.

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

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

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

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

Management of porphyria-like syndrome in tyrosinemia type 1.

Management of porphyria-like syndrome in tyrosinemia type 1.

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

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