Consensus clinical management guidelines for Niemann-Pick disease type C
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
Published in Orphanet journal of rare diseases (06.04.2018)
Published in Orphanet journal of rare diseases (06.04.2018)
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Journal Article
Defining renal phenotype in Alström syndrome
Baig, Shanat, Paisey, Richard, Dawson, Charlotte, Barrett, Timothy, Maffei, Pietro, Hodson, James, Rambhatla, Srinivasa Bhargav, Chauhan, Priyesh, Bolton, Shaun, Dassie, Francesca, Francomano, Clair, Marshall, Robert P, Belal, Mohammed, Skordilis, Kassiani, Hayer, Manvir, Price, Anna M, Cramb, Robert, Edwards, Nicola, Steeds, Richard P, Geberhiwot, Tarekegn
Published in Nephrology, dialysis, transplantation (01.06.2020)
Published in Nephrology, dialysis, transplantation (01.06.2020)
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Journal Article
Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial
Baig, Shanat, Veeranna, Vishy, Bolton, Shaun, Edwards, Nicola, Tomlinson, Jeremy W, Manolopoulos, Konstantinos, Moran, John, Steeds, Richard P, Geberhiwot, Tarekegn
Published in BMC endocrine disorders (26.11.2018)
Published in BMC endocrine disorders (26.11.2018)
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Journal Article
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B)
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
Published in Orphanet journal of rare diseases (17.04.2023)
Published in Orphanet journal of rare diseases (17.04.2023)
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Journal Article
International Niemann-Pick Disease Registry: Establishing worldwide inclusivity
Imrie, Jackie, Bolton, Shaun, Donnelly, Conan
Published in Molecular genetics and metabolism (01.02.2021)
Published in Molecular genetics and metabolism (01.02.2021)
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Journal Article
Development of a patient-reported data collection system for Niemann-Pick disease
Donnelly, Conan B., Imrie, Jackie, Mbua, Solomon, Bolton, Shaun
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article
Medium-Term Outcomes in Severely to Critically Ill Patients With Severe Acute Respiratory Syndrome Coronavirus 2 Infection
Gautam, Nandan, Madathil, Shyam, Tahani, Natascia, Bolton, Shaun, Parekh, Dhruv, Stockley, James, Goyal, Shraddha, Qureshi, Hannah, Yasmin, Sadhika, Cooper, Brendan G, Short, Jennifer, Geberhiwot, Tarekegn
Published in Clinical infectious diseases (29.01.2022)
Published in Clinical infectious diseases (29.01.2022)
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Journal Article
At home enzyme replacement therapy for patients with lysosomal disorders: A single-centre experience
Ochoa-Ferraro, Antonio F., Watkins, Kelly, Dayus-Reason, Andie, Bolton, Shaun, Dawson, Charlotte, Geberhiwot, Tarekegn
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article
Cipaglucosidase alfa and miglustat under the Early Access to Medicines Scheme (EAMS): A single centre experience
Ochoa-Ferraro, Antonio F., Steeds, Sarah, Watkins, Kelly, Bolton, Shaun, Dawson, Charlotte, Geberhiwot, Tarekegn
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article
The International Niemann-Pick Disease Registry (INPDR): A beacon for rare diseases
Imrie, Jackie, Green, Jim, Mathieson, Toni, Bolton, Shaun, Wilson, Angela
Published in Molecular genetics and metabolism (01.02.2020)
Published in Molecular genetics and metabolism (01.02.2020)
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Journal Article
Audit on cardiovascular risk in Fabry disease
Ochoa-Ferraro, Antonio F., Bolton, Shaun, Geberhiwot, Tarekegn, Dawson, Charlotte
Published in Molecular genetics and metabolism (01.02.2020)
Published in Molecular genetics and metabolism (01.02.2020)
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Journal Article
Challenges of regulatory requirements for patient registries in different countries
Imrie, Jackie, Patterson, Marc, Green, Jim, Mathieson, Toni, Bolton, Shaun
Published in Molecular genetics and metabolism (01.02.2019)
Published in Molecular genetics and metabolism (01.02.2019)
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Journal Article
Advanced non-alcoholic fatty liver disease and adipose tissue fibrosis in patients with Alström syndrome
Gathercole, Laura L., Hazlehurst, Jonathan M., Armstrong, Matthew J., Crowley, Rachel, Boocock, Sarah, O'Reilly, Michael W., Round, Maria, Brown, Rachel, Bolton, Shaun, Cramb, Robert, Newsome, Phillip N., Semple, Robert K., Paisey, Richard, Tomlinson, Jeremy W., Geberhiwot, Tarekegn
Published in Liver international (01.11.2016)
Published in Liver international (01.11.2016)
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Journal Article