Mattias Rudebeck

Stockholm, AB, Sweden

Last Updated: 09/26/2026

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Found 29 publications

Efficacy and safety of pegzilarginase in patients below 2 years of age with arginase 1 deficiency: a phase 3, open-label, multi-centre study.

Efficacy and safety of pegzilarginase in patients below 2 years of age with arginase 1 deficiency: a phase 3, open-label, multi-centre study.

Journal: EClinicalMedicine
Published: March 27, 2026

Relationship between elevated arginine and pathophysiology of progressive disease in arginase 1 deficiency.

Relationship between elevated arginine and pathophysiology of progressive disease in arginase 1 deficiency.

Journal: Molecular genetics and metabolism
Published: March 16, 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

Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials.

Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials.

Journal: Journal of inherited metabolic disease
Published: September 03, 2025

Long-Term Efficacy and Tolerability of Pegzilarginase in Arginase 1 Deficiency: Results of Two International Multicentre Open-Label Extension Studies.

Long-Term Efficacy and Tolerability of Pegzilarginase in Arginase 1 Deficiency: Results of Two International Multicentre Open-Label Extension Studies.

Journal: Journal of inherited metabolic disease
Published: March 30, 2025

Societal costs and quality of life associated with arginase 1 deficiency in a European setting - a multinational, cross-sectional survey.

Societal costs and quality of life associated with arginase 1 deficiency in a European setting - a multinational, cross-sectional survey.

Journal: Journal of medical economics
Published: September 04, 2024

Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross-sectional survey.

Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross-sectional survey.

Journal: JIMD reports
Published: July 12, 2024

Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty.

Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty.

Journal: Molecular genetics and metabolism reports
Published: April 08, 2024

Nitisinone Treatment Affects Biomarkers of Bone and Cartilage Remodelling in Alkaptonuria Patients.

Nitisinone Treatment Affects Biomarkers of Bone and Cartilage Remodelling in Alkaptonuria Patients.

Journal: International journal of molecular sciences
Published: May 17, 2023

Revisiting Quantification of Phenylalanine/Tyrosine Flux in the Ochronotic Pathway during Long-Term Nitisinone Treatment of Alkaptonuria.

Revisiting Quantification of Phenylalanine/Tyrosine Flux in the Ochronotic Pathway during Long-Term Nitisinone Treatment of Alkaptonuria.

Journal: Metabolites
Published: August 17, 2022

Comparing the Phenylalanine/Tyrosine Pathway and Related Factors between Keratopathy and No-Keratopathy Groups as Well as between Genders in Alkaptonuria during Nitisinone Treatment.

Comparing the Phenylalanine/Tyrosine Pathway and Related Factors between Keratopathy and No-Keratopathy Groups as Well as between Genders in Alkaptonuria during Nitisinone Treatment.

Journal: Metabolites
Published: July 05, 2022

Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone.

Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone.

Journal: RMD open
Published: April 24, 2022
Showing 1-12 of 29

Last Updated: 09/26/2026