Nitisinone

Last Updated: 06/30/2026

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Found 311 publications

Rational Design of Small-Molecule Stabilizers of Human Fumarylacetoacetate Hydrolase for the Treatment of Tyrosinemia Type I.

Rational Design of Small-Molecule Stabilizers of Human Fumarylacetoacetate Hydrolase for the Treatment of Tyrosinemia Type I.

Journal: Journal of medicinal chemistry
Published: May 12, 2026

Morphological characterization of a novel model of steatohepatitis in the FAH-/- pig.

Morphological characterization of a novel model of steatohepatitis in the FAH-/- pig.

Journal: Veterinary pathology
Published: January 17, 2026

Effect of Nitisinone on Aortic Stenosis Disease Progression in Patients With Alkaptonuria: An Analysis of the Suitability of Nitisinone in Alkaptonuria (SONIA) 2 Study.

Effect of Nitisinone on Aortic Stenosis Disease Progression in Patients With Alkaptonuria: An Analysis of the Suitability of Nitisinone in Alkaptonuria (SONIA) 2 Study.

Journal: Cureus
Published: December 26, 2025

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.

Journal: International journal of molecular sciences
Published: December 20, 2025

Drug-induced cataract: a real-world study based on the food and drug administration adverse event reporting system database.

Drug-induced cataract: a real-world study based on the food and drug administration adverse event reporting system database.

Journal: Frontiers in medicine
Published: December 02, 2025

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.

Journal: Metabolites
Published: November 24, 2025

Alkaptonuria and Cervical Disc Herniation: Case Report.

Alkaptonuria and Cervical Disc Herniation: Case Report.

Journal: International journal of spine surgery
Published: November 17, 2025

Spontaneous Achilles tendon rupture as the initial presentation of ochronosis: a case report.

Spontaneous Achilles tendon rupture as the initial presentation of ochronosis: a case report.

Journal: International journal of surgery case reports
Published: November 07, 2025

Cervicosacral stabilisation in alkaptonuria: seven-year surgical management of multisystem ochronosis including joint arthroplasties.

Cervicosacral stabilisation in alkaptonuria: seven-year surgical management of multisystem ochronosis including joint arthroplasties.

Journal: BMJ case reports
Published: November 06, 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.

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

Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study.

Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study.

Journal: Orphanet journal of rare diseases
Published: October 05, 2025

Harliku (nitisinone): first FDA-approved disease-modifying therapy for alkaptonuria.

Harliku (nitisinone): first FDA-approved disease-modifying therapy for alkaptonuria.

Journal: Annals of medicine and surgery (2012)
Published: September 16, 2025
Showing 1-12 of 311

Last Updated: 06/30/2026