Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Karamjot Sidhu"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)
Abstract Background Patients diagnosed with inborn errors of metabolism (IBEM) often present with compromised bone health leading to low bone density, bone pain, fractures, and short stature. Dual-energy X-ray absorptiometry (DXA) is the current gold
Externí odkaz:
https://doaj.org/article/710af54233a24a639b5399c9fd29f47f
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100606- (2020)
Gaucher disease (GD; OMIM 230800) is a lysosomal storage disorder caused by a deficiency in acid beta-glucosidase as a result of mutation in the GBA gene. Type 1 GD (GD1) is the most common form and its clinical manifestations include severe hematolo
Externí odkaz:
https://doaj.org/article/ec3ffe1a74c5452baf5aac12755e2860
Autor:
Leigh Gabel, Kurt N. Hildebrand, Lauren A Burt, Steven K. Boyd, Bryce A. Besler, Karamjot Sidhu
Publikováno v:
Journal of Clinical Densitometry. 24:465-473
BACKGROUND Peripheral quantitative computed tomography (pQCT) is the current densitometric gold-standard for assessing skeletal muscle at the 66% proximal tibia site. High resolution peripheral quantitative computed tomography (HR-pQCT) is a leading
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcccf58c64afc29ad21d897258c5bed8
https://doi.org/10.1016/j.jocd.2020.11.001
https://doi.org/10.1016/j.jocd.2020.11.001
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100606-(2020)
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100606-(2020)
Gaucher disease (GD; OMIM 230800 ) is a lysosomal storage disorder caused by a deficiency in acid beta-glucosidase as a result of mutation in the GBA gene. Type 1 GD (GD1) is the most common form and its clinical manifestations include severe hematol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bad142e2badcc8ef79097b4cc1ba28ed
http://europepmc.org/articles/PMC7264072
http://europepmc.org/articles/PMC7264072
Additional file 1: Supplemental Figure 1. Additional HR-pQCT measurements plotted. Radius and tibia analysis shown as box-and-whisker plot for HR-pQCT measured microarchitecture. Red lines, from top-to-bottom, represent 75th, 50th, and 25th percentil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d39bdca97c1c3e1b0a55327aae1eb8f
