Nitisinone

Last Updated: 04/28/2026

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Found 308 publications

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

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

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

Evaluating the impact of nitisinone at mosquito-lethal doses on Lutzomyia longipalpis.

Evaluating the impact of nitisinone at mosquito-lethal doses on Lutzomyia longipalpis.

Journal: PLoS neglected tropical diseases

Published: August 21, 2025

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

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

Journal: Genes

Published: July 21, 2025

Unveiling the unexpected: refractory rickets as an uncommon presentation of tyrosinemia type I.

Unveiling the unexpected: refractory rickets as an uncommon presentation of tyrosinemia type I.

Journal: BMC pediatrics

Published: July 18, 2025

Showing 1-12 of 308

Last Updated: 04/28/2026