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Newsletter articlesFull Text
Huang Yonglan Files Chinese Patent Application for Electronic Weight Scale
Publisher:New Delhi: Pedia Content Solutions Pvt. Ltd
Journal title:Global IP News. Healthcare Patent News, 2019
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ArticlesPeer ReviewedFull Text
Characterization of active transposable elements and their new insertions in tuber propagated greater yam (Dioscorea alata)
Author / Creator:Panhwar, Sajjad Ali ; Wang, Dandan ; Lin, Fanhui ; Wang, Ying ; Liu, Mengli ; Chen, Runan ; Huang, Yonglan ; Wu, Wenqiang ; Huang, Dongyi ; Xiao, Yong ; Xia, Wei
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2024-09, Vol.25 (1), p.864-16, Article 864
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ArticlesPeer ReviewedFull Text
Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta
Author / Creator:Feng, Yuyu ; Huang, Yonglan ; Zhao, Xiaoyuan ; Sheng, Huiying ; Su, Xueying ; Yin, Xi ; Li, Liu ; Zhang, Wen
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2024-12, Vol.24 (1), p.830-8, Article 830
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ArticlesPeer ReviewedFull Text
Characteristics of Pompe disease in China: a report from the Pompe registry
Author / Creator:Zhao, Yuying ; Wang, Zhaoxia ; Lu, Jiahong ; Gu, Xuefan ; Huang, Yonglan ; Qiu, Zhengqing ; Wei, Yanping ; Yan, Chuanzhu
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2019-04, Vol.14 (1), p.78-7, Article 78
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ArticlesPeer ReviewedFull Text
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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ArticlesPeer ReviewedFull Text
Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study
Author / Creator:Su, Ling ; Sheng, Huiying ; Li, Xiuzhen ; Cai, Yanna ; Mei, Huifen ; Cheng, Jing ; Li, Duan ; Lu, Zhikun ; Lin, Yunting ; Chen, Xiaodan ; Peng, Minzhi ; Huang, Yonglan ; Zhang, Wen ; Liu, Li
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-05, Vol.19 (1), p.198-18, Article 198
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ArticlesPeer ReviewedFull Text
Assessment of the diagnostic value of serum ceruloplasmin for Wilson’s disease in children
Author / Creator:Lu, Xinshuo ; Li, Simin ; Zhang, Wen ; Lin, Yunting ; Lu, Zhikun ; Cai, Yanna ; Su, Xueying ; Shao, Yongxian ; Liu, Zongcai ; Sheng, Huiying ; Huang, Yonglan ; Liu, Li ; Zeng, Chunhua
Publisher:England: BioMed Central Ltd
Journal title:BMC gastroenterology, 2022-03, Vol.22 (1), p.124-9, Article 124
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ArticlesPeer ReviewedFull Text
A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants
Author / Creator:Shao, Yongxian ; Li, Taolin ; Jiang, Minyan ; Xu, Jianan ; Huang, Yonglan ; Li, Xiuzhen ; Zheng, Ruidan ; Liu, Li
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2022-05, Vol.22 (1), p.267-6, Article 267
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ArticlesPeer ReviewedFull Text
Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life
Author / Creator:Zhang, Wen ; Huang, Yonglan ; Su, Xueying ; Zhao, Xiaoyuan ; Sheng, Huiying ; Liang, Cuili ; Jiang, Minyan ; Zeng, Chunhua ; Cai, Yanna ; Lin, Yunting ; Shao, Yongxian ; liu, Sha ; Jiang, Hua ; Liu, Li
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2025-03, Vol.51 (1), p.83-13, Article 83
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ArticlesPeer ReviewedFull Text
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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ArticlesPeer ReviewedFull Text
Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review
Author / Creator:Mao, Xiaojian ; Liu, Sichi ; Lin, Yunting ; Chen, Zhen ; Shao, Yongxian ; Yu, Qiaoli ; Liu, Haiying ; Lu, Zhikun ; Sheng, Huiyin ; Lu, Xinshuo ; Huang, Yonglan ; Liu, Li ; Zeng, Chunhua
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2019-11, Vol.19 (1), p.456-8, Article 456
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ArticlesPeer ReviewedFull Text
Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review
Author / Creator:Zeng, Chunhua ; Lin, Yunting ; Lu, Zhikun ; Chen, Zhen ; Jiang, Xiaoling ; Mao, Xiaojian ; Liu, Zongcai ; Lu, Xinshuo ; Zhang, Kangdi ; Yu, Qiaoli ; Wang, Xiaoya ; Huang, Yonglan ; Liu, Li
Publisher:England: BioMed Central Ltd
Journal title:BMC musculoskeletal disorders, 2020-03, Vol.21 (1), p.154-6, Article 154
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ArticlesPeer ReviewedFull Text
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry
Author / Creator:Tang, Chengfang ; Li, Lixin ; Chen, Ting ; Li, Yulin ; Zhu, Bo ; Zhang, Yinhong ; Yin, Yifan ; Liu, Xiulian ; Huang, Cidan ; Miao, Jingkun ; Zhu, Baosheng ; Wang, Xiaohua ; Zou, Hui ; Han, Lianshu ; Feng, Jizhen ; Huang, Yonglan
Publisher:Switzerland: MDPI AG
Journal title:International journal of neonatal screening, 2024-06, Vol.10 (2), p.28
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ArticlesPeer ReviewedFull Text
Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy
Author / Creator:Su, Xueying ; Lin, Ruizhu ; Huang, Yonglan ; Sheng, Huiying ; Li, Xiaofei ; Ting, Tzer Hwu ; Liu, Li ; Li, Xiuzhen
Publisher:Turkey: Galenos Yayinevi Tic. Ltd
Journal title:Journal of clinical research in pediatric endocrinology, 2017-03, Vol.9 (1), p.52-57
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ArticlesPeer ReviewedFull Text
Insights into the Pathobiology of GM1 Gangliosidosis from Single-Nucleus Transcriptomic Analysis of CNS Cells in a Mouse Model
Author / Creator:Liu, Sichi ; Xie, Ting ; Huang, Yonglan
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-09, Vol.25 (17), p.9712
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ArticlesPeer ReviewedFull Text
Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants
Author / Creator:Li, Taolin ; Huang, Yonglan ; Tao, Chunyan ; Yin, Xi ; Su, Xueying ; Shao, Yongxian ; Liang, Cuili ; Jiang, Minyan ; Cai, Yanna ; Lin, Yunting ; Zeng, Chunhua ; Zhao, Xiaoyuan ; Liu, Li ; Zhang, Wen
Publisher:New York: Springer Nature B.V
Journal title:Metabolic brain disease, 2024-06, Vol.39 (5), p.753-762
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ArticlesPeer ReviewedFull Text
Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis
Author / Creator:Feng, Yuyu ; Huang, Yonglan ; Zhao, Xiaoyuan ; Sheng, Huiying ; Feng, Yi ; Zhang, Wen ; Liu, Li
Publisher:New York: Springer Nature B.V
Journal title:Metabolic brain disease, 2018-12, Vol.33 (6), p.2051-2057
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ArticlesPeer ReviewedFull Text
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening
Author / Creator:Chen, Ting ; Fan, Chunna ; Huang, Yonglan ; Feng, Jizhen ; Zhang, Yinhong ; Miao, Jingkun ; Wang, Xiaohua ; Li, Yulin ; Huang, Cidan ; Jin, Weiwei ; Tang, Chengfang ; Feng, Lulu ; Yin, Yifan ; Zhu, Bo ; Sun, Meng ; Liu, Xiulian ; Xiang, Jiale ; Tan, Minyi ; Jia, Liyun ; Chen, Lei ; Huang, Hui ; Peng, Huanhuan ; Sun, Xin ; Gu, Xuefan ; Peng, Zhiyu ; Zhu, Baosheng ; Zou, Hui ; Han, Lianshu
Publisher:Chicago: American Medical Association
Journal title:JAMA network open, 2023-09, Vol.6 (9), p.e2331162
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ArticlesPeer ReviewedFull Text
Brain abnormalities in fucosidosis: transplantation or supportive therapy?
Author / Creator:Jiang, Minyan ; Liu, Sha ; Jiang, Hua ; Lin, Yunting ; Shao, Yongxian ; Hu, Hao ; Zhao, Xiaoyuan ; Liu, Hongsheng ; Huang, Yonglan ; Liu, Li
Publisher:New York: Springer US
Journal title:Metabolic brain disease, 2017-04, Vol.32 (2), p.317-320
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ArticlesPeer ReviewedFull Text
Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease
Author / Creator:Zhang, Wen ; Zeng, Huasong ; Huang, Yonglan ; Xie, Ting ; Zheng, Jipeng ; Zhao, Xiaoyuan ; Sheng, Huiying ; Liu, Hongsheng ; Liu, Li
Publisher:New York: Springer US
Journal title:Metabolic brain disease, 2016-08, Vol.31 (4), p.861-867
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Showing 1 to 20 of 23 results

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Huang Yonglan Files Chinese Patent Application for Electronic Weight Scale

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Characterization of active transposable elements and their new insertions in tuber propagated greater yam (Dioscorea alata)

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Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta

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Characteristics of Pompe disease in China: a report from the Pompe registry

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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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Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study

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Assessment of the diagnostic value of serum ceruloplasmin for Wilson’s disease in children

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A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants

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Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life

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

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Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review

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Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review

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Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry

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Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy

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Insights into the Pathobiology of GM1 Gangliosidosis from Single-Nucleus Transcriptomic Analysis of CNS Cells in a Mouse Model

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Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants

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Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis

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Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening

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Brain abnormalities in fucosidosis: transplantation or supportive therapy?

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Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease

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