Stewart Rust
Manchester, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 24 publications
Farber's Lipogranulomatosis: Multimodal Therapy With Tocilizumab and Consolidative HSCT Improves Assessment, and Long-Term Outcome.
Journal: JIMD reports
Published: June 02, 2025
cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant.
Journal: Molecular genetics and metabolism
Published: August 20, 2024
Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension.
Journal: JIMD reports
Published: May 22, 2024
Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II.
Journal: Journal of inherited metabolic disease
Published: May 07, 2024
A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD: What we have accomplished and what opportunities lie ahead.
Journal: JIMD reports
Published: May 05, 2023
Neuropsychology assessment and outcomes in adult mucopolysaccharidosis - A systematic review as the first step to service development in a large tertiary Lysosomal Storage Disorders centre.
Journal: Molecular genetics and metabolism
Published: September 25, 2022
"Why them, why me, why us?" The experiences of parents of children with lysosomal acid lipase deficiency: an interpretative phenomenological analysis study.
Journal: Orphanet journal of rare diseases
Published: October 05, 2021
A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder.
Journal: Journal of inherited metabolic disease
Published: September 01, 2021
Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.
Journal: Molecular genetics and metabolism
Published: February 25, 2021
High dose genistein in Sanfilippo syndrome: A randomised controlled trial.
Journal: Journal of inherited metabolic disease
Published: February 09, 2021
A narrative-informed evaluation of tree of life for parents of children with physical health conditions.
Journal: Clinical child psychology and psychiatry
Published: November 25, 2020
Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints.
Journal: Molecular genetics and metabolism
Published: August 04, 2020
Last Updated: 09/26/2026