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ArticlesPeer ReviewedFull Text
Newborn screening for genetic disorders: Current status and prospects for the future
Author / Creator:Ding, Si ; Han, Lianshu
Publisher:United States: John Wiley & Sons, Inc
Journal title:Pediatric investigation, 2022-12, Vol.6 (4), p.291-298
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Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency
Author / Creator:Ling, Shiying ; Qiu, Wenjuan ; Zhang, Huiwen ; Liang, Lili ; Lu, Deyun ; Chen, Ting ; Zhan, Xia ; Wang, Yu ; Gu, Xuefan ; Han, Lianshu
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-03, Vol.18 (1), p.48-48, Article 48
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Late-onset cblC defect: clinical, biochemical and molecular analysis
Author / Creator:Ding, Si ; Ling, Shiying ; Liang, Lili ; Qiu, Wenjuan ; Zhang, Huiwen ; Chen, Ting ; Zhan, Xia ; Xu, Feng ; Gu, Xuefan ; Han, Lianshu
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-09, Vol.18 (1), p.1-306, Article 306
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Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency
Author / Creator:Lu, Deyun ; Han, Feng ; Qiu, Wenjuan ; Zhang, Huiwen ; Ye, Jun ; Liang, Lili ; Wang, Yu ; Ji, Wenjun ; Zhan, Xia ; Gu, Xuefan ; Han, Lianshu
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-12, Vol.15 (1), p.340-340, Article 340
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Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newb...
Author / Creator:Tan, Minyi ; Liu, Xiulian ; Zhang, Yinhong ; Yin, Yifan ; Chen, Ting ; Li, Yulin ; Feng, Lulu ; Zhu, Bo ; Xu, Chunjing ; Tang, Chengfang ; Sun, Meng ; Jia, Liyun ; Jin, Weiwei ; Fan, Chunna ; Huang, Hui ; Wang, Xiaohua ; Feng, Jizhen ; Zou, Hui ; Han, Lianshu ; Miao, Jingkun ; Zhu, Baosheng ; Huang, Cidan ; Huang, Yonglan
Publisher:United States: Public Library of Science
Journal title:PloS one, 2024-10, Vol.19 (10), p.e0310517
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Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China
Author / Creator:Chen, Xueru ; Qiu, Wenjuan ; Ye, Jun ; Han, Lianshu ; Gu, Xuefan ; Zhang, Huiwen
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2016-04, Vol.61 (4), p.345-349
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Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita
Author / Creator:Zheng, Wanqi ; Duan, Ying ; Xia, Yu ; Liang, Lili ; Gong, Zhuwen ; Wang, Ruifang ; Lu, Deyun ; Zhang, Kaichuang ; Yang, Yi ; Sun, Yuning ; Zhang, Huiwen ; Han, Lianshu ; Gong, Zizhen ; Xiao, Bing ; Qiu, Wenjuan
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-05, Vol.18 (1), p.126-126, Article 126
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Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays
Author / Creator:Fan, Yanjie ; Wang, Lili ; Sun, Yu ; Xu, Ting ; Gong, Zhuwen ; Zhao, Qianfeng ; Qiu, Wenjuan ; Liang, Lili ; Xiao, Bing ; Zhang, Huiwen ; Han, Lianshu ; Lin, Fujun ; Xu, Rang ; Gu, Xuefan ; Yu, Yongguo
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-04, Vol.66 (4), p.409-417
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Dynamic changes in blood amino acid concentrations in preterm infants in different nutritional periods
Author / Creator:Liu, Danyang ; Wang, Li ; Shen, Haiqing ; Han, Lianshu ; Wang, Ying ; He, Zhenjuan
Publisher:Clayton, Vic: HEC Press
Journal title:Asia Pacific Journal of Clinical Nutrition, 2020-12, Vol.29 (4), p.803-812
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ArticlesPeer ReviewedFull Text
Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia
Author / Creator:Wang, Yu ; Zhang, Huiwen ; Ye, Jun ; Han, Lianshu ; Gu, Xuefan
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2014-10, Vol.59 (10), p.563-567
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Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type
Author / Creator:Chen, Ting ; Liang, Lili ; Zhang, Huiwen ; Ye, Jun ; Qiu, Wenjuan ; Xiao, Bing ; Zhu, Hong ; Wang, Lei ; Xu, Feng ; Gong, Zhuwen ; Gu, Xuefan ; Han, Lianshu
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.125-125, Article 125
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Identification of the plasma metabolomics as early diagnostic markers between biliary atresia and neonatal hepatitis syndrome
Author / Creator:Zhao, Dongying ; Han, Lianshu ; He, Zhengjuan ; Zhang, Jun ; Zhang, Yongjun
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-01, Vol.9 (1), p.e85694
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The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients
Author / Creator:Zhu, Tianwen ; Ye, Jun ; Han, Lianshu ; Qiu, Wenjuan ; Zhang, Huiwen ; Liang, Lili ; Gu, Xuefan
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-07, Vol.7 (1), p.6762-12, Article 6762
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ArticlesPeer ReviewedFull Text
Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma
Author / Creator:Ye, Jun ; Chen, Chao ; Yuan, Yuan ; Han, Lianshu ; Wang, Yaoshen ; Qiu, Wenjuan ; Zhang, Huiwen ; Asan ; Gu, Xuefan
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2018-01, Vol.8 (1), p.161-161, Article 161
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Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies
Author / Creator:Dai, Mengyao ; Xiao, Bing ; Zhang, Huiwen ; Ye, Jun ; Qiu, Wenjuan ; Zhu, Hong ; Wang, Lei ; Liang, Lili ; Zhan, Xia ; Ji, Wenjun ; Wang, Yu ; Yu, Yongguo ; Gu, Xuefan ; Han, Lianshu
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-10, Vol.15 (1), p.1-276, Article 276
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Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China
Author / Creator:Ling, Shiying ; Wu, Shengnan ; Shuai, Ruixue ; Yu, Yue ; Qiu, Wenjuan ; Wei, Haiyan ; Yang, Chiju ; Xu, Peng ; Zou, Hui ; Feng, Jizhen ; Niu, Tingting ; Hu, Haili ; Zhang, Huiwen ; Liang, Lili ; Wang, Yu ; Chen, Ting ; Xu, Feng ; Gu, Xuefan ; Han, Lianshu
Publisher:England: BioMed Central
Journal title:Human genomics, 2024-07, Vol.18 (1), p.84-11, Article 84
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Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China
Author / Creator:Ye, Liang ; Zhang, Yinhong ; Feng, Jizhen ; Huang, Cidan ; Wang, Xiaohua ; Han, Lianshu ; Huang, Yonglan ; Zou, Hui ; Zhu, Baosheng ; Miao, Jingkun
Publisher:Switzerland: MDPI AG
Journal title:International journal of neonatal screening, 2024-12, Vol.10 (4), p.78
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MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases
Author / Creator:Cheng, Ailan ; Han, Lianshu ; Feng, Yun ; Li, Huimin ; Yao, Rong ; Wang, Dengbin ; Jin, Biao
Publisher:Turkey: Galenos Yayinevi Tic. Ltd
Journal title:Diagnostic and interventional radiology (Ankara, Turkey), 2017-09, Vol.23 (5), p.398-402
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A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients
Author / Creator:Liang, Lili ; Shuai, Ruixue ; Yu, Yue ; Qiu, Wenjuan ; Shen, Linghua ; Wu, Shengnan ; Wei, Haiyan ; Chen, Yongxing ; Yang, Chiju ; Xu, Peng ; Chen, Xigui ; Zou, Hui ; Feng, Jizhen ; Niu, Tingting ; Hu, Haili ; Ye, Jun ; Zhang, Huiwen ; Lu, Deyun ; Gong, Zhuwen ; Zhan, Xia ; Ji, Wenjun ; Yu, Yongguo ; Gu, Xuefan ; Han, Lianshu
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.22-22, Article 22
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Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study
Author / Creator:Huang, Zhuo ; Sun, Yu ; Fan, Yanjie ; Wang, Lili ; Liu, Huili ; Gong, Zhuwen ; Wang, Jianguo ; Yan, Hui ; Wang, Yu ; Hu, Guorui ; Wang, Ruifang ; Ye, Jun ; Han, Lianshu ; Qiu, Wenjuan ; Zhang, Huiwen ; Liang, Lili ; Yang, Yu ; Dauber, Andrew ; Yu, Yongguo ; Gu, Xue-Fan
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Cellular physiology and biochemistry, 2018-01, Vol.49 (1), p.295-305
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Showing 1 to 20 of 46 results

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Newborn screening for genetic disorders: Current status and prospects for the future

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Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency

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Late-onset cblC defect: clinical, biochemical and molecular analysis

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Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency

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Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newb...

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Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China

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Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita

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Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays

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Dynamic changes in blood amino acid concentrations in preterm infants in different nutritional periods

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Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia

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Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type

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Identification of the plasma metabolomics as early diagnostic markers between biliary atresia and neonatal hepatitis syndrome

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The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients

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Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma

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Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies

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Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China

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Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China

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MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases

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A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

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Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study

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