E
Elizabeth Jacklin
Researcher at Boston Children's Hospital
Publications - 8
Citations - 582
Elizabeth Jacklin is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Miglustat & Niemann–Pick disease, type C. The author has an hindex of 6, co-authored 8 publications receiving 530 citations. Previous affiliations of Elizabeth Jacklin include St Mary's Hospital.
Papers
More filters
Journal ArticleDOI
Miglustat in adult and juvenile patients with Niemann-Pick disease type C: Long-term data from a clinical trial
James E. Wraith,Darleen Vecchio,Elizabeth Jacklin,Larry A Abel,Harbajan Chadha-Boreham,Cécile Luzy,Ruben Giorgino,Marc C. Patterson +7 more
TL;DR: Overall, these data suggest that long-term miglustat therapy stabilizes neurological disease and is well tolerated in adult and juvenile patients with NP-C.
Journal ArticleDOI
Long-term miglustat therapy in children with Niemann-Pick disease type C.
Marc C. Patterson,Darleen Vecchio,Elizabeth Jacklin,Larry A Abel,Harbajan Chadha-Boreham,Cécile Luzy,Ruben Giorgino,James E. Wraith +7 more
TL;DR: Miglustat stabilized neurological disease progression in pediatric patients with Niemann-Pick disease type C, with comparable safety and tolerability to that observed in adults and juveniles.
Journal ArticleDOI
The natural history of Niemann-Pick disease type C in the UK.
Jackie Imrie,S. Dasgupta,G. T. N. Besley,Clair Harris,L. E. Heptinstall,Stephen Knight,Marie T. Vanier,Anthony H. Fensom,Chandra Ward,Elizabeth Jacklin,C. Whitehouse,James E. Wraith +11 more
TL;DR: There is a clear need to develop a specific treatment for this progressively debilitating neurodegenerative disorder, and a review of NPC patients in the UK confirms the phenotypic variability of this inherited lipid storage disorder.
Journal ArticleDOI
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker
Danielle te Vruchte,Anneliese O. Speak,Kerri L. Wallom,Nada Al Eisa,David Smith,Christian J. Hendriksz,Louise Simmons,Robin H. Lachmann,Alison Cousins,R. Hartung,Eugen Mengel,Heiko Runz,Michael Beck,Yasmina Amraoui,Jackie Imrie,Elizabeth Jacklin,Kate Riddick,Nicole M. Yanjanin,Christopher A. Wassif,Arndt Rolfs,Florian Rimmele,Naomi Wright,Clare Taylor,Uma Ramaswami,Timothy M. Cox,Caroline A. Hastings,Xuntian Jiang,Rohini Sidhu,Daniel S. Ory,Begona Arias,Mylvaganam Jeyakumar,Daniel J. Sillence,James E. Wraith,Forbes D. Porter,Mario Cortina-Borja,Frances M. Platt +35 more
TL;DR: The data indicate that relative acidic compartment volume may be a useful biomarker to aid diagnosis, clinical monitoring, and evaluation of therapeutic responses in patients with lysosomal disorders.
Journal ArticleDOI
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.
Anneliese O. Speak,Danielle te Vruchte,Lianne C. Davis,Anthony J. Morgan,David Smith,Nicole M. Yanjanin,Louise Simmons,R. Hartung,Heiko Runz,Eugen Mengel,Michael Beck,Jackie Imrie,Elizabeth Jacklin,James E. Wraith,Christian J. Hendriksz,Robin H. Lachmann,Céline Cognet,Rohini Sidhu,Hideji Fujiwara,Daniel S. Ory,Antony Galione,Forbes D. Porter,Eric Vivier,Frances M. Platt +23 more
TL;DR: It is found that affected NPC1 patients and NPC1 heterozygote carriers had reduced NK-cell numbers in their blood and showed similar phenotypic and developmental changes to those observed in the NPC1 mouse, highlighting the effects of lysosomal storage on the peripheral immune system.