Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Bingjuan Han"'
Publikováno v:
BMC Pediatrics, Vol 20, Iss 1, Pp 1-8 (2020)
Abstract Background Bainbridge–Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the Additional sex combs-like 3 (ASXL3) gene. Only four cases have been reported in China and are limited
Externí odkaz:
https://doaj.org/article/f994f060921a4ca1bce46a1d5166963b
Publikováno v:
Pediatrics and Neonatology, Vol 61, Iss 2, Pp 148-154 (2020)
Background: The mut methylmalonic acidemia (MMA) caused by the deficiency of methylmalonyl-CoA mutase (MCM) activity, which results from defects in the MUT gene. The aim of this study was to summarize the clinical and biochemical data, spectrum of mu
Externí odkaz:
https://doaj.org/article/e5e518562153432e9e6da8934042cb7f
Autor:
Lin Wang, Fang Ye, Hui Zou, Kundi Wang, Zhihua Chen, Qin Hui, Bingjuan Han, Chun He, Xiaowen Li, Ming Shen
Publikováno v:
BMC Pregnancy and Childbirth, Vol 20, Iss 1, Pp 1-8 (2020)
Abstract Background Since the inception of newborn screening programs in China in the 1990s, pregnancy among patients with inherited, metabolic disorders has become more common. This study explores the management and outcomes of planned, full-term pr
Externí odkaz:
https://doaj.org/article/27ae186e9af64dbcabf115d039498845
Publikováno v:
Pediatrics and Neonatology, Vol 59, Iss 5, Pp 515-519 (2018)
Background: Maple syrup urine disease (MSUD) is a rare metabolic disorder of autosomal recessive inheritance caused by decreased activity of branched-chain α-ketoacid dehydrogenase complex (BCKD). Mutations in the three genes (BCKDHA, BCKDHB and DBT
Externí odkaz:
https://doaj.org/article/bee9b2ab33f84c4599a60f120f03f421
Publikováno v:
Pharmacogenomics and Personalized Medicine
Purpose Mowat–Wilson syndrome (MWS) is a rare complex malformation syndrome which is characterized by typical facial dysmorphism, moderate to severe intellectual disability, global developmental delay, and multiple congenital anomalies. Here, we su
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5234274cff09f23d49bbea895de32bca
https://doi.org/10.2147/pgpm.s320128
https://doi.org/10.2147/pgpm.s320128
Publikováno v:
BMC Pediatrics
BMC Pediatrics, Vol 20, Iss 1, Pp 1-8 (2020)
BMC Pediatrics, Vol 20, Iss 1, Pp 1-8 (2020)
Background Bainbridge–Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the Additional sex combs-like 3 (ASXL3) gene. Only four cases have been reported in China and are limited to the a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7f548e5ec82ed4caf6eda8feb1ee2e3
https://doi.org/10.1186/s12887-020-02027-7
https://doi.org/10.1186/s12887-020-02027-7
Autor:
Xiaowen Li, Hui Zou, Ming Shen, Qin Hui, Fang Ye, Kundi Wang, Lin Wang, Zhihua Chen, Bingjuan Han, Chun He
Publikováno v:
BMC Pregnancy and Childbirth
BMC Pregnancy and Childbirth, Vol 20, Iss 1, Pp 1-8 (2020)
BMC Pregnancy and Childbirth, Vol 20, Iss 1, Pp 1-8 (2020)
BackgroundSince the inception of newborn screening programs in China in the 1990s, pregnancy among patients with inherited, metabolic disorders has become more common. This study explores the management and outcomes of planned, full-term pregnancies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a91275f7fabd99e6c9a22b438bfde8e1
http://europepmc.org/articles/PMC7189601
http://europepmc.org/articles/PMC7189601
Autor:
Kundi Wang, Hui Zou, Bingjuan Han, Jie Chen, Lin Wang, Xiaowen Li, Chun He, Ming Shen, Fang Ye, Zhihua Chen, Weimin Yu
Publikováno v:
Journal of Inherited Metabolic Disease
Summary Background Phenylketonuria (PKU) is a rare inborn disease, which, untreated, leading to severe neurobehavioral dysfunction. Considering its complexity, the management of PKU may bring a formidable economic burden to parents and caregivers. It
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0718cc97d30d78d23bc6d6e764c9dc9
http://europepmc.org/articles/PMC5393103
http://europepmc.org/articles/PMC5393103
Publikováno v:
Brain and Development. 38:491-497
Objectives To estimate the incidence of MMA on newborn screening in Shandong province from May 2011 to May 2014 and summarize the clinical presentation, biochemical features, mutation analysis, and treatment regime of early-treated patients with cblC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46ee77eee87a59f76ecb6430ded9b2eb
https://doi.org/10.1016/j.braindev.2015.10.016
https://doi.org/10.1016/j.braindev.2015.10.016
Publikováno v:
Pakistan journal of pharmaceutical sciences. 30(3(Special))
Cough variant asthma (CVA), as one of bronchitis diseases, features with repeated cough. In clinics, CAV does not show significant abnormal signs, therefore antibiotic therapy can hardly achieve satisfactory treatment effect. With the development of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2504daa963b771603ca7162ffd981584
https://pubmed.ncbi.nlm.nih.gov/28671088
https://pubmed.ncbi.nlm.nih.gov/28671088