Jackie Imrie

Medicine · Health Sciences

19h-index1.6kcitations45works0.02yr avg
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Research Topics

Lysosomal Storage Disorders Research(38), Autoimmune and Inflammatory Disorders Research(20), Child Nutrition and Feeding Issues(12), Family and Disability Support Research(8), Folate and B Vitamins Research(6)

Publications45 total

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
Orphanet Journal of Rare Diseases·2023· 77 citedOpen Access
Development of a patient-reported data collection system for Niemann-Pick disease
Molecular Genetics and Metabolism·2023
Consensus clinical management guidelines for Acid Sphingomyelinase Deficiency (Niemann-Pick disease types A, B and A/B)
2022· 3 citedOpen Access
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
Orphanet Journal of Rare Diseases·2022· 36 citedOpen Access
International consensus on clinical severity scale use in evaluating Niemann–Pick disease Type C in paediatric and adult patients: results from a Delphi Study
Orphanet Journal of Rare Diseases·2021· 17 citedOpen Access
Clinical disease characteristics of patients with Niemann-Pick Disease Type C – findings from the International Niemann-Pick Disease Registry (INPDR)
2021· 5 citedOpen Access
International Niemann-Pick Disease Registry: Establishing worldwide inclusivity
Molecular Genetics and Metabolism·2021
Long‐term survival outcomes of patients with <scp>Niemann‐Pick</scp> disease type C receiving miglustat treatment: A large retrospective observational study
Journal of Inherited Metabolic Disease·2020· 64 citedOpen Access
The International Niemann-Pick Disease Registry (INPDR): A beacon for rare diseases
Molecular Genetics and Metabolism·2020
Challenges of regulatory requirements for patient registries in different countries
Molecular Genetics and Metabolism·2019
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials
Orphanet Journal of Rare Diseases·2018· 69 citedOpen Access
Consensus clinical management guidelines for Niemann-Pick disease type C
Orphanet Journal of Rare Diseases·2018· 275 citedOpen Access
The International Niemann-Pick Disease Registry (INPDR) - A new model of patient-empowered data ownership and management
Molecular Genetics and Metabolism·2018
Corrigendum to “Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases” [Mol. Genet. Metab. 118 (2016) 206–213]
Molecular Genetics and Metabolism·2017· 4 citedOpen Access
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
BMC Pediatrics·2016· 29 citedOpen Access
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases
Molecular Genetics and Metabolism·2016· 115 citedOpen Access
Cause of death in patients with attenuated acid sphingomyelinase deficiency: Comprehensive literature review and report of new cases
Molecular Genetics and Metabolism·2016· 2 cited
Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database
BMC Neurology·2015· 89 citedOpen Access
&lt;sup&gt;1&lt;/sup&gt;H NMR-Linked Urinary Metabolic Profiling of Niemann-Pick Class C1 (NPC1) Disease: Identification of Potential New Biomarkers using Correlated Component Regression (CCR) and Genetic Algorithm (GA) Analysis Strategies
Current Metabolomics·2014· 16 cited
H NMR-Linked Urinary Metabolic Profiling of Niemann-Pick Class C1 (NPC1) Disease: Identification of Potential New Biomarkers using Correlated Component Regression (CCR) and Genetic Algorithm (GA) Analysis Strategies
Current Metabolomics·2014
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Frequent Co-authors

Eugen Mengel(12), Bruno Bembi(10), Shaun Bolton(9), Marc C. Patterson(9), Robin Lachmann(9), Simon Jones(8), Elizabeth Jacklin(8), J. E. Wraith(8), Frances M. Platt(8), Marie T. Vanier(7), Daniëlle te Vruchte(7), Roberto Giugliani(6), Heiko Runz(6), Tarekegn Geberhiwot(5), Andrea Dardis(5), Bénédicte Héron(5), Christian J. Hendriksz(5), J. E. Wraith(5), Helena Jahnová(5), Toni Mathieson(5)