Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Meifang Lei"'
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)
Abstract Background Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by the loss of paternally expressed genes in the human chromosome region 15q11.2-q13. It is characterized by severe hypotonia and feeding difficulties
Externí odkaz:
https://doaj.org/article/7f17e2b2f7f84ee09a5658d71e8a9b8d
Autor:
Xingmiao Liu, Xinquan Liu, Wenxuan Fan, Zhongbin Zhang, Peiyuan Zhang, Xiaojun Liu, Meifang Lei, Qing Li, Xiaoli Yu, Dong Li
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
BackgroundIsovaleric acidaemia (IVA), characterized by an acute metabolic crisis and psychomotor delay, is a rare inherited metabolic disease caused by a deficiency in isovaleryl-CoA dehydrogenase (IVD).MethodsWe report the case of a Chinese patient
Externí odkaz:
https://doaj.org/article/7494e15ebcfe4a64b9636fea8cdfba2a
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundMyelin oligodendrocyte glycoprotein-immunoglobulin G (MOG-IgG)-associated disorders (MOGADs) have been considered as a new inflammatory disease entity of the central nervous system (CNS) and have heterogeneous clinical and imaging presentat
Externí odkaz:
https://doaj.org/article/eb4ff12dbd564f17ba5267fb9739557a
Autor:
Meifang Lei, Ping Wang, Hong Li, Xiaojun Liu, Jianbo Shu, Qianqian Zhang, Chunquan Cai, Dong Li, Yuqin Zhang
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Transient receptor potential melastatin 7 (TRPM7) is a ubiquitously expressed chanzyme comprised of a divalent cation channel permeable to calcium and magnesium and a cytosolic serine-threonine α-kinase domain. TRPM7 has a crucial role in magnesium
Externí odkaz:
https://doaj.org/article/d9742e316d514e76a12aeb651d7d3522
Autor:
Jianbo Shu, Xiufang Zhi, Jing Chen, Meifang Lei, Jie Zheng, Wenchao Sheng, Chunhua Zhang, Dong Li, Chunquan Cai
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Backgroundβ-Ureidopropionase deficiency is a rare autosomal recessive disease affecting the last step of pyrimidine degradation. Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare inherited disor
Externí odkaz:
https://doaj.org/article/ecdbd498a2fd425690269eff14df7914
Publikováno v:
Italian Journal of Pediatrics, Vol 49, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/12b5899454364fa3ac27b797f910235c
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Background: Mitochondrial dynamics, including mitochondrial fission and fusion, transport and distribution, biogenesis and degradation, are critical to neuronal function. The dynamin-1 like (DNM1L) gene encodes dynamin-related protein 1 (DRP1/DLP1),
Externí odkaz:
https://doaj.org/article/2f73ba67e9db4bbc8e6586aac6d90a1e
Background Aicardi-Goutières syndrome 6 (AGS6) is a serious auto immunization-associated acute neurologic decompensation. AGS6 manifests as acute onset of severe generalized dystonia of limbs and developmental regression secondary to febrile illness
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::02158a30f989fa20f924ad1f8e48b0f5
https://doi.org/10.21203/rs.3.rs-2867451/v1
https://doi.org/10.21203/rs.3.rs-2867451/v1
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatrics
Frontiers in Pediatrics
Background: Mitochondrial dynamics, including mitochondrial fission and fusion, transport and distribution, biogenesis and degradation, are critical to neuronal function. The dynamin-1 like (DNM1L) gene encodes dynamin-related protein 1 (DRP1/DLP1),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e1c31123c9c39591f0a9896e9cd5fb9
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(6)
To explore the genetic basis for a child with dihydropyrimidase (DHP) deficiency.High-throughput sequencing was carried out for the child. Suspected variants were verified by using Sanger sequencing.The proband was found to carry compound heterozygou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::923a8e8b9ad7e8f661df350d3dd46dc6
https://pubmed.ncbi.nlm.nih.gov/32472544
https://pubmed.ncbi.nlm.nih.gov/32472544