Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Tanya Collin-Histed"'
Autor:
Karolina M. Stepien, Irena Žnidar, Beata Kieć-Wilk, Angel Jones, Daniela Castillo-García, Magy Abdelwahab, Shoshana Revel-Vilk, Ella Lineham, Derralynn Hughes, Uma Ramaswami, Tanya Collin-Histed
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
IntroductionGaucher disease (GD) is a rare, autosomal recessive lysosomal storage disorder caused by a deficiency in the enzyme glucocerebrosidase. The most common subtype in Europe and the USA, type 1 (GD1), is characterized by fatigue, cytopenia, s
Externí odkaz:
https://doaj.org/article/afd93c6653a640539485fd722a56332f
Autor:
Tanya Collin-Histed, Madeline Stoodley, Kathleen Beusterien, Deborah Elstein, Dena H. Jaffe, Shoshana Revel-Vilk, Elin Haf Davies, the International Gaucher Alliance (IGA)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder. GD types 2 and 3 are known as neuronopathic Gaucher disease (nGD) because they have brain involvement that progresses over time. Implementing a systema
Externí odkaz:
https://doaj.org/article/966c96d854524e36b98f9a6d422e8753
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-5 (2023)
Abstract Background Gaucher disease is a rare, autosomal recessive genetic disorder. It is caused by a lack of sufficient activity of the lysosomal enzyme known as glucocerebrosidase, which leads to an accumulation of glucocerebroside, a fatty substa
Externí odkaz:
https://doaj.org/article/fcad01631f9c4e278820ee073d50558b
Autor:
Atul Mehta, Uma Ramaswami, Joseph Muenzer, Roberto Giugliani, Kurt Ullrich, Tanya Collin-Histed, Zoya Panahloo, Hartmann Wellhoefer, Joel Frader
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Lysosomal storage disorders (LSDs) are rare genetic disorders, with heterogeneous clinical manifestations and severity. Treatment options, such as enzyme replacement therapy (ERT), substrate replacement therapy, and pharmacologica
Externí odkaz:
https://doaj.org/article/5477d878e2a34a8fbe566add29f16e5a
Autor:
Aimee Donald, Huseyin Cizer, Niamh Finnegan, Tanya Collin-Histed, Derralynn A. Hughes, Elin Haf Davies
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Background Gaucher disease is an inherited lysosomal storage disorder of which there are three subtypes. Type 1 disease has no neurological involvement and is treatable with enzyme replacement therapy. Type 2 disease results in infant death
Externí odkaz:
https://doaj.org/article/21c54a1db1534c9087dfd23b1a72e4b2
Publikováno v:
Lysosomal Storage Disorders. :299-307
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c89dcbbdd785d51e5cd8c2e838c69a5e
https://doi.org/10.1002/9781119697312.ch28
https://doi.org/10.1002/9781119697312.ch28
Autor:
Tanya Collin-Histed, Dena Jaffe, Shoshana Revel-Vilk, Majdolen Istaiti, Madeline Stoodley, Elin Haf Davies
Publikováno v:
Molecular Genetics and Metabolism. 138:107058
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ea2c1c43d1aac9a1dd39f54dcf5a9020
https://doi.org/10.1016/j.ymgme.2022.107058
https://doi.org/10.1016/j.ymgme.2022.107058
Autor:
Tanya Collin-Histed, Zoya Panahloo, Kurt Ullrich, Uma Ramaswami, Hartmann Wellhoefer, Joseph Muenzer, Roberto Giugliani, Atul Mehta, Joel Frader
Publikováno v:
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
BackgroundLysosomal storage disorders (LSDs) are rare genetic disorders, with heterogeneous clinical manifestations and severity. Treatment options, such as enzyme replacement therapy (ERT), substrate replacement therapy, and pharmacological chaperon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ff23346154b900bfd56edc97bce7324
Autor:
Arndt Rolfs, Aimee Donald, Magy Abdelwahab, Tama Dinur, Elin Haf Davies, Michael Wajnrajch, David Arkadir, Ashok Vellodi, Uma Ramaswami, Ellen Sidransky, Tanya Collin-Histed, Aya Narita, Ozlem Goker-Alpan, Elena Lukina, Eugen Mengel, Shoshana Revel-Vilk, Jeff Szer, Raphael Schiffmann, Ari Zimran, Han-Wook Yoo, Jeff Sevigny
Publikováno v:
Journal of Inherited Metabolic Disease
Neuronopathic Gaucher disease (nGD) has a very wide clinical and genotypic spectrum. However, there is no consensus definition of nGD, including no description of how best to diagnostically separate the acute form—Gaucher type 2—from the subacute
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7bd364b72642f089d1003d656ac383f
https://pubmed.ncbi.nlm.nih.gov/32242941
https://pubmed.ncbi.nlm.nih.gov/32242941
Autor:
M. Weisz Hubshman, C.E.M. Hollak, Marc G. Berger, Theodore Marinakis, Fiorina Giona, Ursula Plöckinger, Hanna Rosenbaum, Marieke Biegstraaten, Gregory M. Pastores, J. Timmerman, Tanya Collin-Histed, Eugen Mengel, Dimitrios I. Zafeiriou, Cristina Fraga, M. Di Rocco, Ari Zimran, Nadia Belmatoug, Per Ole Iversen, Argiris Symeonidis, Derralynn Hughes, Anna Tylki-Szymańska, Elena Lukina, Jeff Szer, S. vom Dahl, M. Hasanhodzic, P Giraldo, Timothy M. Cox, Christine Serratrice, A.I. Kiewiet, Maciej Machaczka
Publikováno v:
Blood cells, molecules & diseases, 68, 203-208. Academic Press Inc.
Blood Cells, Molecules and Diseases
Blood Cells, Molecules and Diseases, Elsevier, 2018, 68, pp.203-208. ⟨10.1016/j.bcmd.2016.10.008⟩
Blood Cells, Molecules and Diseases
Blood Cells, Molecules and Diseases, Elsevier, 2018, 68, pp.203-208. ⟨10.1016/j.bcmd.2016.10.008⟩
Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of the condition and, as a consequence, many patients show a modified phenotype which reflects manifestations of their disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a602f7e007575969685b655e309955cd
https://doi.org/10.1016/j.bcmd.2016.10.008
https://doi.org/10.1016/j.bcmd.2016.10.008