Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Joslyn Crowe"'
Autor:
Eva M. Raebel, Samantha Wiseman, Conan Donnelly, Toni Mathieson, Jackson Pountney, Joslyn Crowe, Justin Hopkin
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
Abstract Background Acid Sphingomyelinase Deficiency (ASMD) is an ultra-rare autosomal recessive lysosomal storage disorder characterized by intracellular lipid accumulation resulting from reduced function of acid sphingomyelinase. Olipudase alfa, an
Externí odkaz:
https://doaj.org/article/c6aca82695a34d0788dab577209b8ca8
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background Major challenges to health care access include low health insurance literacy, prohibitive costs, and insurance barriers. Niemann–Pick disease (NPD), comprising acid sphingomyelinase deficiency (ASMD) and Niemann–Pick type C (N
Externí odkaz:
https://doaj.org/article/d2c35a3f56014b6ab7050821b0312efc
Autor:
Eugen Mengel, Marc C. Patterson, Michael Chladek, Christina Guldberg, Christine í Dali, Tara Symonds, Lucy Lloyd-Price, Toni Mathieson, Joslyn Crowe, Claire Burbridge
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Background Niemann-Pick disease type C (NPC) is a debilitating condition that impacts patients’ and caregivers’ quality of life (QOL) and reduces the patient’s life expectancy. Since there is little qualitative research from the perspe
Externí odkaz:
https://doaj.org/article/04afd113d8674f91a5645ce4861fc91f
Autor:
Robin Pokrzywinski, Asha Hareendran, Luba Nalysnyk, Sandy Cowie, Joslyn Crowe, Justin Hopkin, Dhaivat Joshi, Ruth Pulikottil-Jacob
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract Acid sphingomyelinase deficiency (ASMD), historically known as Niemann–Pick disease (NPD) types A, A/B, and B, is a rare, progressive, potentially fatal lysosomal storage disease with a spectrum of phenotypes. Little is known about how ASM
Externí odkaz:
https://doaj.org/article/77977a39f6cc484ea27403ee4ac28ed5
Publikováno v:
Molecular Genetics and Metabolism. 138:107151
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bad35e56b77d7478d1f3c36825c86259
https://doi.org/10.1016/j.ymgme.2022.107151
https://doi.org/10.1016/j.ymgme.2022.107151
Autor:
Taylor Fields, Joslyn Crowe, Will Evans, Julie Greenfield, Justin Hopkin, Jennifer K. Thornton, Daniel Lewi, Toni Mathieson, Diana Pangonis
Publikováno v:
Molecular Genetics and Metabolism. 138:107099
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::665c8bd9be2a7d3c155385cf3e0c32ca
https://doi.org/10.1016/j.ymgme.2022.107099
https://doi.org/10.1016/j.ymgme.2022.107099
Autor:
Tara Symonds, Lucy Lloyd-Price, Eugen Mengel, Christina Guldberg, Michael Chladek, Christine í Dali, Toni Mathieson, Claire Burbridge, Marc C. Patterson, Joslyn Crowe
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Background Niemann-Pick disease type C (NPC) is a debilitating condition that impacts patients’ and caregivers’ quality of life (QOL) and reduces the patient’s life expectancy. Since there is little qualitative research from the perspective of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de45f4b5587cc54322fb38374f32218b
https://doi.org/10.1186/s13023-021-02105-8
https://doi.org/10.1186/s13023-021-02105-8
Autor:
Dhaivat Joshi, Justin Hopkin, Ruth Pulikottil-Jacob, Robin Pokrzywinski, Joslyn Crowe, Luba Nalysnyk, Asha Hareendran, Sandy Cowie
Publikováno v:
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Acid sphingomyelinase deficiency (ASMD), historically known as Niemann–Pick disease (NPD) types A, A/B, and B, is a rare, progressive, potentially fatal lysosomal storage disease with a spectrum of phenotypes. Little is known about how ASMD symptom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b671bae445eaacc28fc0c1b4b8b4cee
https://pubmed.ncbi.nlm.nih.gov/34697402
https://pubmed.ncbi.nlm.nih.gov/34697402
Publikováno v:
Molecular Genetics and Metabolism. 135:S99
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::534aa9d72dba6b9108fef5a04c8a1d2e
https://doi.org/10.1016/j.ymgme.2021.11.259
https://doi.org/10.1016/j.ymgme.2021.11.259
Autor:
Joslyn Crowe, Marc C. Patterson, Toni Mathieson, Christine í Dali, Michael Chladek, Claire Burbridge, Lucy Lloyd-Price, Tara Symonds, Eugen Mengel, Christina Guldberg
Publikováno v:
Molecular Genetics and Metabolism. 132:S71
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1a5e8b6f2f50c2f7222af76786509014
https://doi.org/10.1016/j.ymgme.2020.12.164
https://doi.org/10.1016/j.ymgme.2020.12.164