Search Results - "Cai, Yanna"

Human iPSC-derived neural stem cells with ALDH5A1 mutation as a model of succinic semialdehyde dehydrogenase deficiency by Chen, Xiaodan, Peng, Minzhi, Cai, Yanna, Zhou, Chengcheng, Liu, Li

“…Succinic semialdehyde dehydrogenase deficiency (SSADH-D) is an autosomal recessive gamma-aminobutyric acid (GABA) metabolism disorder that can arise due to…”
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The Role of the Gut Microbiome in the Development of Acute Pancreatitis by Zhou, Ruilin, Wu, Qingyang, Yang, Zihan, Cai, Yanna, Wang, Duan, Wu, Dong

“…With the explosion research on the gut microbiome in the recent years, much insight has been accumulated in comprehending the crosstalk between the gut…”
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Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets by Lin, Yunting, Zhang, Wen, Huang, Xinjiang, Su, Ling, Cai, Yanna, Liang, Cuili, Rao, Min, Liu, Li, Zeng, Chunhua

“…X-linked hypophosphatemic rickets (XLH) is the most common form of hypophosphatemic rickets, which is caused by the deficiencies of PHEX gene with an X-linked…”
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Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study by 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

“…Methylmalonic aciduria (MMA) is a group of rare genetic metabolic disorders resulting from defects in methylmalonyl coenzyme A mutase (MCM) or intracellular…”
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Natural history and outcome of nonketotic hyperglycinemia in China by Zhou, Zhizi, Cai, Yanna, Li, Xiuzhen, Liu, Zongcai, Peng, Minzhi, Lin, Yunting, Mao, Xiaojian, Zeng, Chunhua, Liu, Li, Zhang, Wen

“…Nonketotic hyperglycinemia (NKH) is a rare, life-threatening genetic disorder. The patients usually show heterogeneous and nonspecific symptoms, resulting in…”
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Thyroid function in children with Prader-Willi syndrome in Southern China: a single-center retrospective case series by Huang, Xinjiang, Yin, Xi, Wu, Dongyan, Cai, Yanna, Li, Xiuzhen, Zhang, Wen, Zeng, Chunhua, Mao, Xiaojian, Liu, Li

“…To investigate hypothalamic-pituitary-thyroid function in children of different ages, nutritional phases, and genotypes that were diagnosed with Prader-Willi…”
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Assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children by 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

“…Serum ceruloplasmin is one of the major diagnostic parameters for Wilson's disease (WD). Age and gender difference of serum ceruloplasmin remain controversy…”
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Separation and identification of underivatized plasma acylcarnitine isomers using liquid chromatography–tandem mass spectrometry for the differential diagnosis of organic acidemias and fatty acid oxidation defects by Peng, Minzhi, Fang, Xiefan, Huang, Yonglan, Cai, Yanna, Liang, Cuili, Lin, Ruizhu, Liu, Li

“…•We developed a HPLC–MS/MS method to separate and identify acylcarnitine isomers.•Acylcarnitines were detected without derivatization.•Stereoisomers were…”
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Features of chinese patients with sitosterolemia by Zhou, Zhizi, Su, Xueying, Cai, Yanna, Ting, Tzer Hwu, Zhang, Wen, Lin, Yunting, Xu, Aijing, Mao, Xiaojian, Zeng, Chunhua, Liu, Li, Li, Xiuzhen

“…Sitosterolemia is a lipid disorder characterized by the accumulation of phytosterols in plasma and organs, caused by mutations in the ABCG5 and/or ABCG8 genes…”
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Measurement of free carnitine and acylcarnitines in plasma by HILIC-ESI-MS/MS without derivatization by Peng, Minzhi, Liu, Li, Jiang, Minyan, Liang, Cuili, Zhao, Xiaoyuan, Cai, Yanna, Sheng, Huiying, Ou, Zhiying, Luo, Hong

“…•A method for measurement of acylcarnitines has been developed using HILIC-MS/MS.•Acylcarnitines were detected without derivatization.•IDA experiment was…”
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Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China by Zhang, Wen, Lin, Ruizhu, Lu, Zhikun, Sheng, Huiying, Xu, Yi, Li, Xiuzhen, Cheng, Jing, Cai, Yanna, Mao, Xiaojian, Liu, Li

“…Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in , or . Mutational analysis of these…”
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Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study by Lin, Yunting, Guan, Zhihong, Mei, Huifen, Zhang, Wen, Zhou, Zhizi, Su, Ling, Cheng, Jing, Zheng, Ruidan, Liang, Cuili, Cai, Yanna, Yin, Xi, Wu, Dongyan, Liu, Li, Zeng, Chunhua

“…Purpose Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by deficiency of the CYP27B1 gene. This study aims to…”
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Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China by Jiang, MinYan, Liu, Li, Mei, HuiFen, Li, XiuZhen, Cheng, Jing, Cai, YanNa

“…Inborn errors of metabolism (IEM) have been detected worldwide using gas chromatography mass spectrometry (GC-MS) since the 1980s, but few related reports…”
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Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China by Zhang, Wen, Lin, Ruizhu, Lu, Zhikun, Sheng, Huiying, Xu, Yi, Li, Xiuzhen, Cheng, Jing, Cai, Yanna, Mao, Xiaojian, Liu, Li

“…Purpose: Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in ATP8B1, ABCB11 or ABCB4…”
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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 population by Tang, Chengfang, Tang, Fang, Cai, Yanna, Tan, Minyi, Liu, Sichi, Xie, Ting, Jiang, Xiang, Huang, Yonglan

“…X-linked adrenoleukodystrophy (X-ALD) is a rare X-linked disease caused by mutations of the ABCD1 gene. C26:0-lysophosphatidylcholine (C26:0-LPC) has been…”
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Mechanisms underlying the efficacy and limitation of dopa and tetrahydrobiopterin therapies for the deficiency of GTP cyclohydrolase 1 revealed in a novel mouse model by Jiang, Xiaoling, Shao, Yongxian, Liao, Yongqiang, Zheng, Xiaoning, Peng, Minzhi, Cai, Yanna, Wang, Meiyi, Liu, Huazhen, Zeng, Chunhua, Lin, Yunting, Zhang, Wen, Liu, Li

“…Dopa and tetrahydrobiopterin (BH4) supplementation are recommended therapies for the dopa-responsive dystonia caused by GTP cyclohydrolase 1 (GCH1, also known…”
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Research advances in the molecular classification of gastric cancer by Shi, Dike, Yang, Zihan, Cai, Yanna, Li, Hongbo, Lin, Lele, Wu, Dan, Zhang, Shengyu, Guo, Qingqu

“…Gastric cancer (GC) is a malignant tumor with one of the lowest five-year survival rates. Traditional first-line treatment regimens, such as platinum drugs,…”
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Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China by Su, Ling, Yin, Xi, Cheng, Jing, Cai, Yanna, Wu, Dongyan, Feng, Zhichun, Liu, Li

“…Classical 21-hydroxylase deficiency (21-OHD) due to mutations in the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene is the most common type of…”
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‘Isolated’ germline mosaicism in the phenotypically normal father of a girl with X-linked hypophosphatemic rickets by Lin, Yunting, Cai, Yanna, Xu, Jianan, Zeng, Chunhua, Sheng, Huiying, Yu, Yang, Li, Xiuzhen, Liu, Li

“…Objective X-linked hypophosphatemic rickets (XLHR) is the most common form of inherited rickets caused by pathogenic variants of PHEX gene with an X-linked…”
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Rapid quantification of metabolic intermediates in blood by liquid chromatography-tandem mass spectrometry to investigate congenital lactic acidosis by Peng, Minzhi, Cai, Yanna, Fang, Xiefan, Liu, Li

“…A novel liquid chromatography-tandem mass spectrometry (LC-MS/MS) method has been established to quantify metabolic intermediates, including lactate (Lac),…”
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