Guillem Morell-Pintos

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 52 publications

Diagnosis, treatment, and follow-up of Fabry disease in pediatrics.

Diagnosis, treatment, and follow-up of Fabry disease in pediatrics.

Journal: Molecular genetics and metabolism

Published: October 09, 2025

Long-term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey.

Long-term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey.

Journal: European journal of clinical investigation

Published: June 26, 2025

Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single-Centre Cohort.

Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single-Centre Cohort.

Journal: European journal of neurology

Published: June 05, 2025

Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review.

Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review.

Journal: Journal of clinical medicine

Published: May 23, 2025

Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy.

Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy.

Journal: Molecular genetics and metabolism reports

Published: January 22, 2025

Extracellular Vesicles as Tools for Crossing the Blood-Brain Barrier to Treat Lysosomal Storage Diseases.

Extracellular Vesicles as Tools for Crossing the Blood-Brain Barrier to Treat Lysosomal Storage Diseases.

Journal: Life (Basel, Switzerland)

Published: November 19, 2024

Human, economic, and social impact of lysosomal storage diseases.

Human, economic, and social impact of lysosomal storage diseases.

Journal: Orphanet journal of rare diseases

Published: October 16, 2024

The Role of the Gut Microbiota in Sanfilippo Syndrome's Physiopathology: An Approach in Two Affected Siblings.

The Role of the Gut Microbiota in Sanfilippo Syndrome's Physiopathology: An Approach in Two Affected Siblings.

Journal: International journal of molecular sciences

Published: June 22, 2024

Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys.

Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys.

Journal: Orphanet journal of rare diseases

Published: March 12, 2024

Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee.

Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee.

Journal: European journal of medical genetics

Published: March 08, 2024

Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement.

Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement.

Journal: Orphanet journal of rare diseases

Published: July 15, 2022

Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital.

Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital.

Journal: Blood cells, molecules & diseases

Published: April 05, 2022

Showing 1-12 of 52

Last Updated: 09/26/2026