Maureen A. Cleary

Great Ormond Street
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 41 publications

The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.

The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.

Journal: Journal of inherited metabolic disease

Published: July 26, 2023

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.

Journal: Epilepsia

Published: November 02, 2022

A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B.

A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B.

Journal: The Journal of clinical investigation

Published: September 02, 2022

Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.

Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.

Journal: The Journal of pediatrics

Published: January 05, 2022

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Journal: The New England journal of medicine

Published: November 10, 2021

Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature.

Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature.

Journal: Journal of clinical medicine

Published: September 10, 2021

Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency.

Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency.

Journal: JIMD reports

Published: September 03, 2021

A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.

A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.

Journal: Molecular genetics and metabolism

Published: April 09, 2021

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial.

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial.

Journal: Orphanet journal of rare diseases

Published: March 22, 2021

Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.

Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.

Journal: Neurology. Genetics

Published: February 12, 2021

Long-term cognitive and psychosocial outcomes in adults with phenylketonuria.

Long-term cognitive and psychosocial outcomes in adults with phenylketonuria.

Journal: Journal of inherited metabolic disease

Published: August 12, 2020

Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England.

Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England.

Journal: Orphanet journal of rare diseases

Published: June 22, 2020

Showing 1-12 of 41

Last Updated: 09/26/2026