Zobrazeno 1 - 10
of 2 257
pro vyhledávání: '"Gba"'
Autor:
John S. Wang, Rebecca L. Koch, Daniel Kenney‐Jung, Erin Huggins, Sirajbir S. Sodhi, Andrew P. Landstrom, Dilraj S. Grewal, Priya S. Kishnani
Publikováno v:
JIMD Reports, Vol 65, Iss 5, Pp 313-322 (2024)
Abstract Gaucher disease (GD) type 3 is an autosomal recessive lysosomal disease caused by deficiency of β‐glucocerebrosidase (GCase) and encompasses a spectrum of cardiac, neurological, and ophthalmological abnormalities. Although the clinical pr
Externí odkaz:
https://doaj.org/article/e5177f4c0dd24ab4b0496f0777628667
Autor:
Giuseppe Mario Bentivenga, Simone Baiardi, Andrea Mastrangelo, Edoardo Ruggeri, Angela Mammana, Alice Ticca, Marcello Rossi, Sabina Capellari, Piero Parchi
Publikováno v:
Alzheimer’s Research & Therapy, Vol 16, Iss 1, Pp 1-13 (2024)
Abstract Background The term rapidly progressive dementia (RPD) with Lewy bodies (rpDLB) is used for DLB patients who develop a rapidly progressive neurological syndrome and have reduced survival. Here, we characterise the clinical, neuropathological
Externí odkaz:
https://doaj.org/article/ef9e0e17a9784355bde2bcad2168bd17
Publikováno v:
Geo-spatial Information Science, Vol 27, Iss 4, Pp 1090-1106 (2024)
Rapid morphological and socioeconomic changes have accelerated the urbanization process and urban land use transformation in China. Megacities comprise clusters of urban cities and exhibit both newly formed and well-developed urban land use developme
Externí odkaz:
https://doaj.org/article/24301e58483b486bacc549be10f72598
Autor:
Ku Gao, Xiaomei Yang, Zhihua Wang, Feilin Lai, Huifang Zhang, Tiezhu Shi, He Li, Qingyang Zhang
Publikováno v:
International Journal of Digital Earth, Vol 17, Iss 1 (2024)
ABSTRACTMulti-scale landscape functions play a critical role in revealing intricate functional structures within large regions. However, previous studies on landscape functions have predominantly focused on a single macro or micro scale, impeding a h
Externí odkaz:
https://doaj.org/article/5def46860d354a5f8c6d03bc055be8b0
Publikováno v:
Neurology Perspectives, Vol 4, Iss 3, Pp 100153- (2024)
Parkinson's disease (PD) accounts for a significant burden on modern society, with an increasingly rapid growth in cases. Variants of several genes have been linked to the risk of developing the disease (e.g., the GBA gene). Other genes have been ass
Externí odkaz:
https://doaj.org/article/ce6f4e58ec904cd694a210628b4a0c89
Autor:
Antonio De Vivo, Giovanni Marconi, Nicola Tumedei, Elisa Luicchini, Maria Chiara Finazzi, Ilaria Maria Burgo, Gian Luca Forni, Silvia Linari
Publikováno v:
Italian Journal of Medicine, Vol 18, Iss 2 (2024)
Gaucher disease (GD) is a rare genetic disorder characterized by glucocerebrosidase deficiency. Over 50% of patients with mild disease go undiagnosed, suggesting that GD diagnosis rates are still significantly low despite advancements in medical know
Externí odkaz:
https://doaj.org/article/ec284c6d1979463bae51f723483260f8
Publikováno v:
Sustainable Business and Society in Emerging Economies, Vol 6, Iss 2 (2024)
Purpose: This research aims to ascertain the link between green supply chain management practices (GSCMP) and green brand association (GBA), as well as the role that GBA plays as a mediator between GSCMP and GBS, among Pakistani apparel brands. Consu
Externí odkaz:
https://doaj.org/article/1d4a6ed5c39d4decb9b30753529c79a2
Publikováno v:
Weather and Climate Extremes, Vol 44, Iss , Pp 100656- (2024)
Tropical cyclone (TC) peripheral downdrafts and urbanization can promote extreme heatwave (HW) events in the Greater Bay Area (GBA), a highly urbanized coastal area in China. However, the roles of synoptic patterns and urbanization in the HW events r
Externí odkaz:
https://doaj.org/article/4c5b964e80ab4881a323b2e4d6a92f84
Autor:
Nurfadilah Nadjib, Anita Triastuti
Publikováno v:
Journal on English as a Foreign Language, Vol 13, Iss 2, Pp 475-498 (2023)
Many studies indicated a genre-based approach (GBA) as an effective method in English foreign language (EFL) teaching and GBA is also integrated into the English teaching curriculum. However, EFL teachers' portraits of GBA use in teaching practices a
Externí odkaz:
https://doaj.org/article/edb7f429468b4b7192e5014f56c1c3c2
Publikováno v:
IEEE Journal of Selected Topics in Applied Earth Observations and Remote Sensing, Vol 17, Pp 3438-3451 (2024)
Accurate and reliable mangrove datasets are essential for the protection and management of mangrove ecosystems. Therefore, the evaluation of the current mangrove datasets and understanding the differences among them are critical. This study takes the
Externí odkaz:
https://doaj.org/article/299ad07b34ae4bd79f6a5a8d4e175ff2