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ArticlesPeer ReviewedFull Text
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
Author / Creator:Morton, Georgina ; Thomas, Sophie ; Roberts, Pat ; Clark, Vivienne ; Imrie, Jackie ; Morrison, Alexandra
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-11, Vol.17 (1), p.1-403, Article 403
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ArticlesPeer ReviewedFull Text
Consensus clinical management guidelines for Niemann-Pick disease type C
Author / Creator:Geberhiwot, Tarekegn ; Moro, Alessandro ; Dardis, Andrea ; Ramaswami, Uma ; Sirrs, Sandra ; Marfa, Mercedes Pineda ; Vanier, Marie T. ; Walterfang, Mark ; Bolton, Shaun ; Dawson, Charlotte ; Héron, Bénédicte ; Stampfer, Miriam ; Imrie, Jackie ; Hendriksz, Christian ; Gissen, Paul ; Crushell, Ellen ; Coll, Maria J. ; Nadjar, Yann ; Klünemann, Hans ; Mengel, Eugen ; Hrebicek, Martin ; Jones, Simon A. ; Ory, Daniel ; Bembi, Bruno ; Patterson, Marc
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-04, Vol.13 (1), p.50-50, Article 50
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ArticlesPeer ReviewedFull Text
The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland
Author / Creator:Thomas, Sophie ; Morrison, Alexandra ; Morton, Georgina ; Roberts, Pat ; Clark, Vivienne ; Imrie, Jackie
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.87-87, Article 87
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ArticlesPeer ReviewedFull Text
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
Author / Creator:Geberhiwot, Tarekegn ; Wasserstein, Melissa ; Wanninayake, Subadra ; Bolton, Shaun Christopher ; Dardis, Andrea ; Lehman, Anna ; Lidove, Olivier ; Dawson, Charlotte ; Giugliani, Roberto ; Imrie, Jackie ; Hopkin, Justin ; Green, James ; de Vicente Corbeira, Daniel ; Madathil, Shyam ; Mengel, Eugen ; Ezgü, Fatih ; Pettazzoni, Magali ; Sjouke, Barbara ; Hollak, Carla ; Vanier, Marie T. ; McGovern, Margaret ; Schuchman, Edward
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-04, Vol.18 (1), p.85-85, Article 85
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ArticlesPeer ReviewedFull Text
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
Author / Creator:Bolton, Shaun C. ; Soran, Vina ; Marfa, Mercedes Pineda ; Imrie, Jackie ; Gissen, Paul ; Jahnova, Helena ; Sharma, Reena ; Jones, Simon ; Santra, Saikat ; Crushell, Ellen ; Stampfer, Miriam ; Coll, Maria Jose ; Dawson, Charlotte ; Mathieson, Toni ; Green, James ; Dardis, Andrea ; Bembi, Bruno ; Patterson, Marc C. ; Vanier, Marie T. ; Geberhiwot, Tarekegn
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-02, Vol.17 (1), p.51-51, Article 51
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ArticlesPeer ReviewedFull Text
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials
Author / Creator:Cortina-Borja, Mario ; te Vruchte, Danielle ; Mengel, Eugen ; Amraoui, Yasmin ; Imrie, Jackie ; Jones, Simon A. ; i Dali, Christine ; Fineran, Paul ; Kirkegaard, Thomas ; Runz, Heiko ; Lachmann, Robin ; Bremova-Ertl, Tatiana ; Strupp, Michael ; Platt, Frances M.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-08, Vol.13 (1), p.143-143, Article 143
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ArticlesPeer ReviewedFull Text
Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat
Author / Creator:Walterfang, Mark ; Chien, Yin-Hsiu ; Imrie, Jackie ; Rushton, Derren ; Schubiger, Danielle ; Patterson, Marc C
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2012-10, Vol.7 (1), p.76-76
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ArticlesPeer ReviewedFull Text
New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
Author / Creator:Wraith, Ed
Publisher:New Zealand: Taylor & Francis Ltd
Journal title:Therapeutics and clinical risk management, 2009, Vol.5 (default), p.877-887
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ArticlesPeer ReviewedFull Text
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
Author / Creator:Imrie, Jackie ; Heptinstall, Lesley ; Knight, Stephen ; Strong, Kate
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2015-12, Vol.15 (1), p.257-257, Article 257
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ArticlesPeer ReviewedFull Text
International consensus on clinical severity scale use in evaluating Niemann–Pick disease Type C in paediatric and adult patients: results from a Delphi Study
Author / Creator:Evans, William ; Patterson, Marc ; Platt, Frances ; Guldberg, Christina ; Mathieson, Toni ; Pacey, Jessica ; Berry-Kravis, Elizabeth ; Farhat, Nicole ; Gascon, Jordi ; Geberhiwot, Tarek ; Gissen, Paul ; Giugliani, Roberto ; Hastings, Caroline ; Héron, Bénédicte ; Imrie, Jackie ; Jones, Simon ; Lachmann, Robin ; Mengel, Eugen ; Pineda, Mercedes ; Porter, Denny ; Runz, Heiko ; Stampfer, Miriam ; Strupp, Michael ; Walterfang, Mark
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-11, Vol.16 (1), p.482-482, Article 482
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ArticlesPeer ReviewedFull Text
Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker
Author / Creator:te Vruchte, Danielle ; Speak, Anneliese O. ; Wallom, Kerri L. ; Al Eisa, Nada ; Smith, David A. ; Hendriksz, Christian J. ; Simmons, Louise ; Lachmann, Robin H. ; Cousins, Alison ; Hartung, Ralf ; Mengel, Eugen ; Runz, Heiko ; Beck, Michael ; Amraoui, Yasmina ; Imrie, Jackie ; Jacklin, Elizabeth ; Riddick, Kate ; Yanjanin, Nicole M. ; Wassif, Christopher A. ; Rolfs, Arndt ; Rimmele, Florian ; Wright, Naomi ; Taylor, Clare ; Ramaswami, Uma ; Cox, Timothy M. ; Hastings, Caroline ; Jiang, Xuntian ; Sidhu, Rohini ; Ory, Daniel S. ; Arias, Begona ; Jeyakumar, Mylvaganam ; Sillence, Daniel J. ; Wraith, James E. ; Porter, Forbes D. ; Cortina-Borja, Mario ; Platt, Frances M.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2014-03, Vol.124 (3), p.1320-1328
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ArticlesPeer ReviewedFull Text
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
Author / Creator:Pineda, Mercedes ; Mengel, Eugen ; Jahnová, Helena ; Héron, Bénédicte ; Imrie, Jackie ; Lourenço, Charles M. ; van der Linden, Vanessa ; Karimzadeh, Parvaneh ; Valayannopoulos, Vassili ; Jesina, Pavel ; Torres, Juan V. ; Kolb, Stefan A.
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2016-07, Vol.16 (1), p.107-107, Article 107
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ArticlesPeer ReviewedFull Text
Successful allogeneic bone marrow transplant for Niemann–Pick disease type C2 is likely to be associated with a severe ‘graft versus substrate’ effect
Author / Creator:Bonney, Denise K. ; O’Meara, Anne ; Shabani, Abdu ; Imrie, Jackie ; Bigger, Brian W. ; Jones, Simon ; Wraith, James E. ; Wynn, Robert F.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.171-173
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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

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Consensus clinical management guidelines for Niemann-Pick disease type C

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The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland

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Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)

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Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

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

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Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

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New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

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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

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International consensus on clinical severity scale use in evaluating Niemann–Pick disease Type C in paediatric and adult patients: results from a Delphi Study

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Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker

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A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

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Successful allogeneic bone marrow transplant for Niemann–Pick disease type C2 is likely to be associated with a severe ‘graft versus substrate’ effect

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