Jackie Imrie
Floor 5, Thanet Way
Whitstable, ENG CT53SB, United Kingdom
Whitstable, ENG CT53SB, United Kingdom
Last Updated: 09/26/2026
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Found 15 publications
The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland.
Journal: Orphanet journal of rare diseases
Published: November 15, 2022
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Journal: Orphanet journal of rare diseases
Published: October 31, 2022
The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: results of a Caregiver Survey in the UK and Republic of Ireland.
Journal: Orphanet journal of rare diseases
Published: June 23, 2022
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Journal: Orphanet journal of rare diseases
Published: September 27, 2021
Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study.
Journal: Journal of inherited metabolic disease
Published: January 23, 2020
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.
Journal: Orphanet journal of rare diseases
Published: July 05, 2018
Consensus clinical management guidelines for Niemann-Pick disease type C.
Journal: Orphanet journal of rare diseases
Published: November 24, 2017
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].
Journal: Molecular genetics and metabolism
Published: November 14, 2017
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.
Journal: Molecular genetics and metabolism
Published: March 09, 2016
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C).
Journal: BMC pediatrics
Published: January 23, 2016
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.
Journal: BMC neurology
Published: September 23, 2015
Last Updated: 09/26/2026