Zobrazeno 1 - 10
of 165
pro vyhledávání: '"Xinhua Bao"'
Autor:
Lifen Duan, Lei Ye, Runxiu Yin, Ying Sun, Wei Yu, Yi Zhang, Haiyan Zhong, Xinhua Bao, Xin Tian
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-12 (2024)
Abstract Background Developmental and epileptic encephalopathy-50 (DEE-50) is a rare clinical condition believed to be caused by a mutation in the CAD gene and is associated with a bleak prognosis. CAD-related diseases have a wide range of clinical m
Externí odkaz:
https://doaj.org/article/a32ca749e0f0494f99f2aa8ac904ade0
Publikováno v:
BMC Medicine, Vol 21, Iss 1, Pp 1-10 (2023)
Abstract Background Germline mosaicisms could be inherited to offspring, which considered as “de novo” in most cases. Paternal germline MECP2 mosaicism has been reported in fathers of girls with Rett syndrome (RTT) previously. For further study,
Externí odkaz:
https://doaj.org/article/c79c7f5ea2ae48db99af6a7a9dd9088e
Autor:
Cuijie Wei, Zhenwei Liang, Ying Wu, Shan Liu, Jianxing Qiu, Lingchao Meng, Chunde Li, Shuang Li, Xinhua Bao, Zhaoxia Wang, Luzeng Chen, Hui Xiong
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background Intrathecal injection of medications can be challenging in spinal muscular atrophy (SMA) patients with severe scoliosis or after spine surgery. Here we report our experience with real-time ultrasound (US)-guided intrathecal admini
Externí odkaz:
https://doaj.org/article/f26d041b305847d689243ad170d41703
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2023)
BackgroundManganese (Mn) is an essential trace metal necessary for good health; however, excessive amounts in the body are neurotoxic. To date, three genes (SLC30A10, SLC39A8, and SLC39A14) have been discovered to cause inborn errors in Mn metabolism
Externí odkaz:
https://doaj.org/article/bf7f11158f6946f18115c88a87859f3b
Autor:
XiuShan Ge, CuiJie Wei, Hui Dong, YueHua Zhang, XinHua Bao, Ye Wu, DanYu Song, HongJun Hao, Hui Xiong
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Myasthenia gravis is an autoimmune disease mediated by B cells and is associated with acetylcholine receptor (AChR) and muscle-specific receptor tyrosine kinase (MuSK) antibodies in the postsynaptic membrane at the neuromuscular junction. The presenc
Externí odkaz:
https://doaj.org/article/fa48b6b9707b4921b6c5dbc483896ff3
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 1, Pp n/a-n/a (2022)
Abstract Background Variants in the ATP binding cassette protein subfamily D member 1 (ABCD1) gene are known to cause X‐linked adrenoleukodystrophy (X‐ALD). This study focused on the characteristics of ABCD1 variants in Chinese X‐ALD families a
Externí odkaz:
https://doaj.org/article/35c1719d44be4b8d8dea3c795650891a
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Objective To summarize and extend the phenotypic characterization of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, and to discuss genotype-phenotype correlations. Methods Collecting clinical information of 17 patients with patho
Externí odkaz:
https://doaj.org/article/f21b52c5319549e0b8d82cc218e1fdea
Autor:
Jiaping Wang, Junling Wang, Xiaodi Han, Zhimei Liu, Yanli Ma, Guohong Chen, Haoya Zhang, Dan Sun, Ruifeng Xu, Yi Liu, Yuqin Zhang, Yongxin Wen, Xinhua Bao, Qian Chen, Fang Fang
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Thiamine metabolism dysfunction syndrome 2 (THMD2) is a rare metabolic disorder caused by SLC19A3 mutations, inherited in autosomal recessive pattern. As a treatable disease, early diagnosis and therapy with vitamin supplementation is important to im
Externí odkaz:
https://doaj.org/article/ff4e4163ba4040d2b7d95d544b3fe4cc
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)
Abstract Background MEF2C (Myocyte-specific enhancer factor 2C) has been associated with neurodevelopmental disorders. This study aimed at delineating the clinical profiles of MEF2C gene mutations. Methods In total, 112 Chinese patients with intellec
Externí odkaz:
https://doaj.org/article/21119a45ae4342078d20f37d0bfab978
Autor:
Linxia Zhang, Yongxin Wen, Qingping Zhang, Yan Chen, Jiaping Wang, Kaili Shi, Lijun Du, Xinhua Bao
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Background: The CACNA1A gene encodes the voltage-dependent P/Q-type calcium channel subunit alpha-1A, which is widely expressed throughout the CNS. The biological roles of the P/Q channel are diverse and the phenotypic spectrum caused by CACNA1A muta
Externí odkaz:
https://doaj.org/article/491970207e254006973e823bdccac430