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Clinica Chimica Acta; International Journal of Clinical Chemistry|November 17, 2023
A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese populationChengfang Tang, Fang Tang, Yanna Cai, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|March 14, 2020
High risk screening for Gaucher disease in patients with splenomegaly and/or thrombocytopenia in China: 55 cases identifiedYonglan Huang, Xuefang Jia, Chengfang Tang, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|October 12, 2019
The adjustment of 17-hydroxyprogesterone cut-off values for congenital adrenal hyperplasia neonatal screening by GSP according to gestational age and age at samplingXiang Jiang, Fang Tang, Yi Feng, et al.Experimental Biology and Medicine (Maywood, N.J.)|February 15, 2021
A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagySichi Liu, Yuyu Feng, Yonglan Huang, et al.European Journal of Medical Genetics|July 26, 2020
Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe diseaseXueying Su, Huiying Sheng, Yonglan Huang, et al.European Journal of Medical Genetics|March 5, 2024
Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in ChinaXueying Su, Xiaoyuan Zhao, Xi Yin, et al.BMC Medical Genomics|December 4, 2014
"Genotype-first" approaches on a curious case of idiopathic progressive cognitive declineLingling Shi, Bingxiao Li, Yonglan Huang, et al.Journal of Clinical Research in Pediatric Endocrinology|September 10, 2016
Clinical and Mutational Features of Three Chinese Children with Congenital Generalized LipodystrophyXueying Su, Ruizhu Lin, Yonglan Huang, et al.Gene|September 17, 2013
Molecular genetic assay of mucopolysaccharidosis IVA in South ChinaDengmin He, Yonglan Huang, Zhiying Ou, et al.Metabolic Brain Disease|March 30, 2016
Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff diseaseWen Zhang, Huasong Zeng, Yonglan Huang, et al.Pageof 6