Zobrazeno 1 - 10
of 1 624
pro vyhledávání: '"GUAN, PING"'
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-10 (2024)
Abstract Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive inherited lysosomal storage disease. With pathogenic variants of the IDS gene, the activity of iduronate-2-sulfatase (IDS) is reduced or lost, causing the inability to degra
Externí odkaz:
https://doaj.org/article/fa0cf8ca34fb4d4cabccc1d48a6437e2
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-11 (2024)
Abstract Background Prader-Willi syndrome (PWS) is a rare multisystemic hereditary illness. Recombinant human growth hormone (rhGH) therapy is widely recognized as the primary treatment for PWS. This study aimed to examine how different PWS genotypes
Externí odkaz:
https://doaj.org/article/0ca12f4d223a485288857e4c2495ab33
Autor:
Hou, Tongtong, Yang, Qian, Ding, Minling, Wang, Xin, Mei, Kun, Guan, Ping, Wang, Chaoli, Hu, Xiaoling
Publikováno v:
In Colloids and Surfaces B: Biointerfaces December 2024 244
Publikováno v:
In Structures November 2024 69
Publikováno v:
In Marine and Petroleum Geology November 2024 169
Autor:
Shao, Xu, Li, Muqiong, Yan, Chaoren, Wang, Chao, Wang, Xin, Guan, Ping, Hu, Xiaoling, Fan, Li
Publikováno v:
In Colloids and Surfaces B: Biointerfaces February 2025 246
Publikováno v:
In Sedimentary Geology September 2024 471
Publikováno v:
In Environmental and Experimental Botany September 2024 225
Publikováno v:
In Protist August 2024 175(4)
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
Abstract Objective To characterize the phenotype spectrum, diagnosis, and response to growth‐promoting therapy in patients with ACAN variants causing familial short stature. Methods Three families with ACAN variants causing short stature were repor
Externí odkaz:
https://doaj.org/article/2d66a09de1d64d4788bdf434211a8176