Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Shaun Bolton"'
Autor:
Shanat Baig, Vishy Veeranna, Shaun Bolton, Nicola Edwards, Jeremy W. Tomlinson, Konstantinos Manolopoulos, John Moran, Richard P. Steeds, Tarekegn Geberhiwot
Publikováno v:
BMC Endocrine Disorders, Vol 18, Iss 1, Pp 1-10 (2018)
Abstract Background Alström syndrome (ALMS) is a very rare autosomal recessive monogenic disorder caused by a mutation in the ALMS1 gene and characterised by childhood onset obesity, dyslipidaemia, advanced non-alcoholic fatty liver disease, diabete
Externí odkaz:
https://doaj.org/article/a70bf23105cd41e3815119f94c2a3b3d
Autor:
Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J. Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A. Jones, Daniel Ory, Bruno Bembi, Marc Patterson, on behalf of the International Niemann-Pick Disease Registry (INPDR)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-19 (2018)
Abstract Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting i
Externí odkaz:
https://doaj.org/article/133c728d8bde41bfb85dc58ba966d00c
Autor:
Antonio F. Ochoa-Ferraro, Sarah Steeds, Kelly Watkins, Shaun Bolton, Charlotte Dawson, Tarekegn Geberhiwot
Publikováno v:
Molecular Genetics and Metabolism. 138:107241
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15081184eee68cc8d45ac396e586f010
https://doi.org/10.1016/j.ymgme.2022.107241
https://doi.org/10.1016/j.ymgme.2022.107241
At home enzyme replacement therapy for patients with lysosomal disorders: A single-centre experience
Autor:
Antonio F. Ochoa-Ferraro, Kelly Watkins, Andie Dayus-Reason, Shaun Bolton, Charlotte Dawson, Tarekegn Geberhiwot
Publikováno v:
Molecular Genetics and Metabolism. 138:107242
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d30c8cd1e223caf97821d02640fe5b8f
https://doi.org/10.1016/j.ymgme.2022.107242
https://doi.org/10.1016/j.ymgme.2022.107242
Publikováno v:
Molecular Genetics and Metabolism. 138:107084
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::56a99871130d073f3ae93ac76e55722e
https://doi.org/10.1016/j.ymgme.2022.107084
https://doi.org/10.1016/j.ymgme.2022.107084
Autor:
Paul Gissen, Saikat Santra, Jim Green, Maria Jose Coll, Andrea Dardis, Charlotte Dawson, Reena Sharma, Toni Mathieson, Shaun Bolton, Helena Jahnová, Jackie Imrie, Marc C. Patterson, Marie Therese Vanier, Tarekegn Geberhiwot, Vina Soran, Bruno Bembi, Ellen Crushell, Simon Jones, Mercedes Pineda Marfa, Miriam Stampfer
Background Niemann-Pick Disease Type C (NPC) is an autosomal recessive rare disease characterised by progressive neurovisceral manifestations. The collection of on-going large-scale NPC clinical data may generate better understandings of the natural
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd3b2e32b09f1edd24eacb9eb605e5f2
https://doi.org/10.21203/rs.3.rs-934191/v1
https://doi.org/10.21203/rs.3.rs-934191/v1
Autor:
James Stockley, Dhruv Parekh, Tarekegn Geberhiwot, Natascia Tahani, Brendan G Cooper, Sadhika Yasmin, Shyam Madathil, Nandan Gautam, Hannah Qureshi, Jennifer M. Short, Shaun Bolton, Shraddha Goyal
Publikováno v:
Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
Background The medium- and long-term effects of severe acute respiratory syndrome coronavirus 2 infection on survivors are unknown. In the current study, we assessed the medium-term effects of coronavirus disease 2019 (COVID-19) on survivors of sever
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f650e9213425899f88de47e00c50291f
https://pubmed.ncbi.nlm.nih.gov/33893486
https://pubmed.ncbi.nlm.nih.gov/33893486
Publikováno v:
Molecular Genetics and Metabolism. 132:S51
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5861adcc31dc8320f8b9d7e56a88d6a3
https://doi.org/10.1016/j.ymgme.2020.12.110
https://doi.org/10.1016/j.ymgme.2020.12.110
Publikováno v:
Molecular Genetics and Metabolism. 129:S78
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c94121065f03ee7dfae8e915f2dc9900
https://doi.org/10.1016/j.ymgme.2019.11.189
https://doi.org/10.1016/j.ymgme.2019.11.189
Autor:
Shaun Bolton
Publikováno v:
Molecular Genetics and Metabolism. 129:S32
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::62f3de1d17b67114948d93b7c62dcd20
https://doi.org/10.1016/j.ymgme.2019.11.055
https://doi.org/10.1016/j.ymgme.2019.11.055