Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Guan-Ping Dong"'
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
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
Autor:
Guo-Hua Li, Ke Huang, Guan-Ping Dong, Jian-Wei Zhang, Chun-Xiu Gong, Fei-Hong Luo, Xiao-Ping Luo, Chun-Lin Wang, Min Zhu, Pin Li, Ling Wang, Jun-Fen Fu, The T1DM China Study Group for Children Adolescents
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
ObjectiveTo investigate the clinical incidence and characteristics of type 1 diabetes mellitus (T1DM) of children and adolescents at the time of initial diagnosis in China.MethodsData on all pediatric patients with newly diagnosed T1DM were retrospec
Externí odkaz:
https://doaj.org/article/8a5729a679f5405da8b2ab25c399ed25
Publikováno v:
BMJ Open Diabetes Research & Care, Vol 8, Iss 1 (2020)
Introduction This study was performed to investigate the role of iron overload in the early stage of hyperglycemia-induced vascular functional impairment.Research design and methods A total of 196 obese children were enrolled, and data regarding ferr
Externí odkaz:
https://doaj.org/article/0d38703720504f0f8f4f13888b112880
Publikováno v:
BMJ Open Diabetes Research & Care, Vol 8, Iss 1 (2020)
Introduction Loss-of-function mutations in tRNA methyltransferase 10 homologue A (TRMT10A), a tRNA methyltransferase, have recently been described as a monogenic cause of early-onset diabetes with microcephaly, epilepsy and intellectual disability.Re
Externí odkaz:
https://doaj.org/article/532be49f78d249369dadd3dbf24baeb8
Autor:
Zhe-Wen Qin, Qian-Nan Ren, Hong-Xi Zhang, Ya-Ru Liu, Ke Huang, Wei Wu, Guan-Ping Dong, Yan Ni, Jun-Fen Fu
Publikováno v:
World Journal of Pediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4f7e59db0c417b339d7c670827c4cabb
https://doi.org/10.1007/s12519-023-00704-y
https://doi.org/10.1007/s12519-023-00704-y
BackgroundPrader-Willi syndrome (PWS) is a rare neurodevelopmental disorder that is partially caused by maternal uniparental disomy (UPD) of chromosome 15. Copy-neutral loss of heterozygosity (CN-LOH) observed on the distal long arm of chromosome 15
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f12c92a367c2fadf5a5d3f9319330f6d
https://doi.org/10.21203/rs.3.rs-944633/v1
https://doi.org/10.21203/rs.3.rs-944633/v1
Autor:
Xue-lian Zhou, Xue-feng Chen, Li Zhang, Jin-na Yuan, Hu Lin, Ming-qiang Zhu, Xiao-qin Xu, Guan-ping Dong, Jun-fen Fu, Wei Wu
Objective To investigate the role of mannose-binding lectin (MBL) in modulating autophagy and protecting endothelial cells (ECs) from oxidized low-density lipoprotein (ox-LDL) induced injury. Materials and Methods Rapamycin and chloroquine were used
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c1c30a021cd4b621802c59882ce95266
https://doi.org/10.21203/rs.3.rs-238411/v1
https://doi.org/10.21203/rs.3.rs-238411/v1
Autor:
Hu, Lin, Xuelian, Zhou, Xuefeng, Chen, Ke, Huang, Wei, Wu, Junfen, Fu, Yangxi, Li, Constantin, Polychronakos, Guan-Ping, Dong
Publikováno v:
BMJ Open Diabetes Research & Care
Introduction Loss-of-function mutations in tRNA methyltransferase 10 homologue A (TRMT10A), a tRNA methyltransferase, have recently been described as a monogenic cause of early-onset diabetes with microcephaly, epilepsy and intellectual disability. R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::113697ba5e4c6cac72d84c4136199e99
https://pubmed.ncbi.nlm.nih.gov/33067246
https://pubmed.ncbi.nlm.nih.gov/33067246