Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Yanshu Xie"'
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
IntroductionHyponatremia is one of the most prevalent water-electrolyte disturbances encountered in clinical practice in pediatrics and can arise from various conditions. However, there are limited reports on hyponatremia in hospitalized infants. The
Externí odkaz:
https://doaj.org/article/a3f100fde5f4488babc2372ab9441a0a
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)
Abstract Background Emery–Dreifuss muscular dystrophy (EDMD2) is a rare form of muscular dystrophy that is inherited as an autosomal dominant trait. In some patients, it is inherited from parental mosaicism, and this increases the recurrence risk s
Externí odkaz:
https://doaj.org/article/7b940989e9614589b8d6adebe80464c3
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
IntroductionHyperkalemia is a rare but severe condition in young children and usually discovered as a result of hemolysis of the blood samples taken. However, patients with defects in either aldosterone biosynthesis or function can also present with
Externí odkaz:
https://doaj.org/article/0b92161358964234b599513cff0f11ec
Publikováno v:
Molecular Genetics & Genomic Medicine.
Publikováno v:
SSRN Electronic Journal.
Autor:
Gang Chen, Dan Lan, Yanshu Xie, Jiapeng Zhang, Yi-Wu Dang, Vidata Bhandari, Haixia Liao, Jingzi Zhong
Publikováno v:
Molecular Medicine Reports
The present study aimed to determine the genetic status of manifesting carriers (MCs) of Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) and asymptomatic carriers with a family history of DMD/BMD, and identify potential simple and r
Publikováno v:
International Journal of Molecular Medicine
Bethlem myopathy (BM) is an autosomal dominant or autosomal recessive disorder and is usually associated with mutations in the collagen VI genes. In the present study, the pathogenicity of a novel splice-site mutation was explored using RNA-sequencin