Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Maciej Machaczka"'
Autor:
Aimee Donald, Cecilia Kämpe Björkvall, Ashok Vellodi, GAUCHERITE Consortium, Timothy M. Cox, Derralyn Hughes, Simon A. Jones, Robert Wynn, Maciej Machaczka
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Neuronopathic Gaucher Disease (nGD) describes the condition of a subgroup of patients with the Lysosomal Storage Disorder (LSD), Gaucher disease with involvement of the central nervous system (CNS) which results from inherited def
Externí odkaz:
https://doaj.org/article/87856b3cd87144b293aea32047560137
Publikováno v:
JIMD Reports, Vol 63, Iss 1, Pp 93-100 (2022)
Abstract Introduction Gaucher disease (GD) is a monogenic, lysosomal storage disorder, classified according to the presence of acute (type 2), chronic (type 3), or no (type 1) neurological manifestations. The Norrbottnian subtype of neuronopathic GD
Externí odkaz:
https://doaj.org/article/0abe9ad56a1a41e6a677ea4c6ac16205
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-14 (2019)
Abstract Background Gaucher disease (GD) is one of the most prevalent lysosomal storage diseases and is associated with hormonal and metabolic abnormalities, including nutritional status disorders, hypermetabolic state with high resting energy expend
Externí odkaz:
https://doaj.org/article/1855a934430f4f45ae89ba0f7eb97524
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 23, p 12889 (2021)
Trans-ferulic acid (FA) is a derivative of 4-hydroxycinnamic acid, which is found in many food products, fruits and beverages. It has scientifically proven antioxidant, anti-inflammatory and antibacterial properties. However, its low ability to perme
Externí odkaz:
https://doaj.org/article/813971c08cdf4cb684e4a34f6d661785
Publikováno v:
Nutrients, Vol 13, Iss 6, p 2038 (2021)
Chrysin belongs to the group of natural polyphenols. It can be found, among others, in honey, propolis and fruits and has a wide range of biological activities, including the prevention of oxidative stress, inflammation, neurodegeneration and carcino
Externí odkaz:
https://doaj.org/article/4966a6fbe7e7448196766c2adcccbc8a
Autor:
Josefine Blume, Stanislav Beniaminov, Cecilia Kämpe Björkvall, Maciej Machaczka, Per Svenningsson
Publikováno v:
Frontiers in Neurology, Vol 8 (2017)
BackgroundChronic neuronopathic Gaucher’s disease type 3 (GD3) is relatively frequent in northern Sweden. Besides multiple other neurological symptoms, horizontal gaze palsy or oculomotor apraxia is common in GD3.ObjectiveTo characterize the saccad
Externí odkaz:
https://doaj.org/article/d64073d3448b4b3a82f6f0f63b9cc8e2
Autor:
Maciej Machaczka, Monika Klimkowska, Samuel C.C. Chiang, Marie Meeths, Martha-Lena Müller, Britt Gustafsson, Jan-Inge Henter, Yenan T. Bryceson
Publikováno v:
Haematologica, Vol 98, Iss 5 (2013)
Experimental model systems have delineated an important role for cytotoxic lymphocytes in the immunosurveillance of cancer. In humans, perforin-deficiency has been associated with occurrence of hematologic malignancies. Here, we describe an Epstein-B
Externí odkaz:
https://doaj.org/article/90ae64125864449c996d3e06b82db564
Publikováno v:
JIMD Reports
JIMD Reports, Vol 63, Iss 1, Pp 93-100 (2022)
JIMD Reports, Vol 63, Iss 1, Pp 93-100 (2022)
Introduction Gaucher disease (GD) is a monogenic, lysosomal storage disorder, classified according to the presence of acute (type 2), chronic (type 3), or no (type 1) neurological manifestations. The Norrbottnian subtype of neuronopathic GD type 3 (G
Autor:
Ellen Hertz, Per Svenningsson, Ellen Sidransky, Björn Holmberg, Måns Thörnqvist, Maciej Machaczka
Publikováno v:
Movement Disorders Clinical Practice. 6:254-258
BACKGROUND: Mutations in the glucocerebrosidase gene (GBA) are a common genetic risk factor for Parkinson's disease (PD). Mutations in the N‐terminus part of GBA are less commonly found in association with PD than those in the C‐terminus. Phenoty
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