Publications by authors named "Hoang Thi Ngoc Lan"
Article Synopsis
- The study examined the prevalence of thalassemia in the Vietnamese population and aimed to develop clinical decision support systems (CDSS) for prenatal screening.
- A cross-sectional study surveyed over 10,000 first-time pregnant women and their husbands at a national hospital to gather data for the CDSS.
- Results indicated that an expert system and AI-based models were developed, with the expert system achieving 98.45% accuracy, while the best AI model had a slightly lower accuracy but still performed well, highlighting the effectiveness of both approaches in thalassemia screening.
To study the structural basis of the GM2 gangliosidosis B variant, we constructed the three-dimensional structures of the human beta-hexosaminidase alpha-subunit and the heterodimer of the alpha- and beta-subunits, Hex A, by homology modeling. The alpha-subunit is composed of two domains, domains I and II. Nine mutant models due to specific missense mutations were constructed as well and compared with the wild type to determine structural defects.
View Article and Find Full Text PDFMolecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients with Sanfilippo syndrome type B from six unrelated families was carried out, and six disease-causing mutations were found. The parents of Patient 2 had a consanguinous marriage, but other families did not have any record of consanguinity. Two families were from Okinawa Island, where more patients with Sanfilippo syndrome were found than in other areas in Japan.
View Article and Find Full Text PDF