Simon Jones

Deletion of <i>CH25H</i> and <i>LIPA</i> Genes in Human Abolishes Biosynthesis of 25-Hydroxycholesterol but not of 7α,25-Dihydroxysterols and Enhances Non-enzymatic Cholesterol Oxidation: Metabolic Changes are Partially Reversed by Hematopoietic Stem Cell Transplant ^‡

Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases

Response to correspondence from McCarthy et al. regarding maternal sepsis screening and the role of the neutrophil-to-lymphocyte ratio

Large Language Model–Based Responses to Patients’ In-Basket Messages

Development and evaluation of an artificial intelligence-based workflow for the prioritization of patient portal messages

Outcome of haematopoietic cell transplantation in children with lysosomal acid lipase deficiency: a study on behalf of the EBMT Inborn Errors Working Party

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance

Metabolism of Non-Enzymatically Derived Oxysterols: Clues from sterol metabolic disorders

Pre-clinical Safety and Efficacy of Lentiviral Vector-Mediated Ex Vivo Stem Cell Gene Therapy for the Treatment of Mucopolysaccharidosis IIIA

Characteristics of patients with mucopolysaccharidosis type II who have received a bone marrow transplant: Data from the Hunter Outcome Survey

Consensus clinical management guidelines for Niemann-Pick disease type C

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials

Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison

Efficacy and safety of Velmanase alfa in the treatment of patients with alpha‐mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double‐blind, randomised, placebo‐controlled trial

Comprehensive long‐term efficacy and safety of recombinant human alpha‐mannosidase (velmanase alfa) treatment in patients with alpha‐mannosidosis

Identification of unusual oxysterols and bile acids with 7-oxo or 3β,5α,6β-trihydroxy functions in human plasma by charge-tagging mass spectrometry with multistage fragmentation

Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis

Ethnicity Recording in Primary Care Computerised Medical Record Systems: An Ontological Approach

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double‐blind, pilot study

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo‐controlled study

Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux–Lamy syndrome)—10‐year follow‐up of patients who previously participated in an MPS VI survey study