Paul R. Harmatz

Paul R. Harmatz

Pediatric Gastroenterology | Gastroenterology

744 52nd St
5th Floor
Oakland, CA 94609

Last Updated: 09/26/2026

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Found 174 publications

Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia.

Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia.

Journal: The New England journal of medicine

Published: June 29, 2026

An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II.

An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II.

Journal: The New England journal of medicine

Published: December 30, 2025

Liver iron susceptometry is different in patients with transfusion dependent thalassemia and sickle cell disease compared with hemochromatosis.

Liver iron susceptometry is different in patients with transfusion dependent thalassemia and sickle cell disease compared with hemochromatosis.

Journal: Biochemistry and biophysics reports

Published: July 11, 2025

Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the Hunter Outcome Survey.

Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the Hunter Outcome Survey.

Journal: Molecular genetics and metabolism

Published: July 04, 2025

Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial.

Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial.

Journal: Molecular genetics and metabolism

Published: March 17, 2025

Long-term enzyme replacement therapy: Findings from the mucopolysaccharidosis VI clinical surveillance program after 15 years follow-up.

Long-term enzyme replacement therapy: Findings from the mucopolysaccharidosis VI clinical surveillance program after 15 years follow-up.

Journal: Molecular genetics and metabolism

Published: March 04, 2025

Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale.

Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale.

Journal: Molecular genetics and metabolism reports

Published: February 10, 2025

Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases.

Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: December 05, 2024

Oral Infigratinib Therapy in Children with Achondroplasia.

Oral Infigratinib Therapy in Children with Achondroplasia.

Journal: The New England journal of medicine

Published: November 18, 2024

Safety of anesthesia in mucopolysaccharidoses - A comparative retrospective cohort study on more than 600 cases.

Safety of anesthesia in mucopolysaccharidoses - A comparative retrospective cohort study on more than 600 cases.

Journal: Molecular genetics and metabolism

Published: September 28, 2024

Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study.

Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study.

Journal: Med (New York, N.Y.)

Published: August 06, 2024

Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey.

Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey.

Journal: Orphanet journal of rare diseases

Published: June 27, 2024

Showing 1-12 of 174

Last Updated: 09/26/2026