Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Lian-Cheng Lan"'
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-10 (2024)
Abstract Background Galactosemia is an autosomal recessive disorder resulting from an enzyme defect in the galactose metabolic pathway. The most severe manifestation of classic galactosemia is caused by galactose-1-phosphate uridylyltransferase (GALT
Externí odkaz:
https://doaj.org/article/360a55cc99bd4b19938c2362c7edcda8
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundWilson’s disease (WD) is a rare cause of acute liver failure (ALF) and has a high fatality rate. Rapid and accurate diagnosis is important for ALF because of WD (ALF-WD). Our objective was to establish a simple, rapid, and accurate diagno
Externí odkaz:
https://doaj.org/article/2503bf80b150405abbb2b8f1bbbad694
Autor:
Mei-Xiong Yang, Zi-Li Lv, Li Huang, Lian-Cheng Lan, Xiu-Qi Chen, Qing Tang, Xia Yang, Qing-Wen Shan
Publikováno v:
World Journal of Clinical Cases
BACKGROUND The ATP6AP1 gene coding for the accessory protein Ac45 of the vacuolar-type adenosine triphosphatases (V-ATPase) is located on chromosome Xq28. Defects in certain subunits or accessory subunits of the V-ATPase can lead to congenital disord
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59be7223ac84519eeb7a54e9ff82223e
http://europepmc.org/articles/PMC8462236
http://europepmc.org/articles/PMC8462236
Autor:
Li Huang, Qian Zhan, Lian-Cheng Lan, Mei-Xiong Yang, Zi-Li Lv, Xiu-Qi Chen, Qing Tang, Qing-Wen Shan
Publikováno v:
Medicine
Rationale: Glycogen storage disease (GSD) type VI is a rare disease caused by the inherited deficiency of liver phosphorylase. Patient concerns: The proband, a 61-month-old Chinese boy, manifested intermittent hematochezia, growth retardation, hepato
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a70914135190475bd0303239841782e0
https://doi.org/10.1097/md.0000000000025520
https://doi.org/10.1097/md.0000000000025520