检索结果-南通市图书馆

Dissecting the cell microenvironment of ovarian endometrioma through single-cell RNA sequencing

Science China Life Sciences 2025年第1期68卷 116-129页

作者： Jiangpeng Wu Siyu Xia Wenting Ye Yan Sun Jing Cai Fubing Yu Haiping Wen Xiuwei Yi Taikang Li Mingwei Chen Jiayun Chen Ge Song Chuanbin Yang Yali Song Jigang Wang Department of Reproductive Medicine Dongguan Maternal and Child Health Care Hospital Department of Urology and Shenzhen Clinical Research Centre for GeriatricsShenzhen People's HospitalSouthern University of Science and Technology State Key Laboratory for Quality Ensurance and Sustainable Use of Dao-di Herbs Artemisinin Research Centerand Institute of Chinese Materia MedicaChina Academy of Chinese Medical Sciences Reproductive Medicine Center Foshan Women and Children Hospital State Key Laboratory of Antiviral Drugs School of PharmacyHenan University

Ovarian endometrioma（OE）, also known as “chocolate cysts,” is a cystic mass that develops in the ovaries due to endometriosis and is a common gynecological condition characterized by the growth of endometrial tissue outside the uterus, leading to symptoms such as dysmenorrhea, pelvic pain, and infertility. However, the precise molecular and cellular mechanisms driving this pathophysiology remain largely unknown, posing challenges for diagnosis and treatment. Here, we employed integrated single-cell transcriptomic profiling of over 52,000 individual cells from endometrial tissues of OE patients and healthy donors and identified twelve major cell populations. We identified notable alterations in cell type-specific proportions and molecular signatures associated with OE. Notably, the activation of IGFBP5+macrophages with pro-inflammatory properties, NK cell exhaustion, and aberrant proliferation of IQCG+and KLF2+epithelium are key features and may be the potential mechanisms underlying the pathogenesis of OE. Collectively, our data contribute to a better understanding of OE at the single cell level and may pave the way for the development of novel therapeutic strategies.

关键词： ovary high-throughput sequencing transcriptomics gene expression analysis ligand-receptor analysis

来源：

同方期刊数据库评论

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

Skeletal muscle-specific Bambi deletion induces hypertrophy and oxidative switching coupling with adipocyte thermogenesis against metabolic disorders

引用

Science China Life Sciences 2025年

作者： Xiangping Yao Xudong Mai Ye Tian Yifan Liu Guanghui Jin Ze Li Shujie Chen Xiaoshuang Dai Liujing Huang Zijing Fan Guihua Pan Xiaohan Pan Xiangmin Li Michael C Yu Jia Sun Jingxing Ou Hong Chen Liwei Xie College of Life and health Sciences Guangdong Industry Polytechnic Department of Endocrinology and Metabolism Zhujiang Hospital Southern Medical University State Key Laboratory of Applied Microbiology Southern China Guangdong Provincial Key Laboratory of Microbial Culture Collection and Application Guangdong Open Laboratory of Applied MicrobiologyInstitute of Microbiology Guangdong Academy of Sciences Institute of Aging Research Guangdong Provincial Key Laboratory of Medical Molecular Diagnostics School of Medical Technology Guangdong Medical University Department of Hepatic Surgery and Liver transplantation Center of the Third Affiliated hospital Organ Transplantation Institute Sun Yat-sen University Organ Transplantation Research Center of Guangdong ProvinceGuangdong province engineering laboratory for transplantation medicine Guangdong Provincial Key Laboratory of Liver Disease Research School of Public health Xinxiang Medical University BGI Institute of Applied Agriculture BGI-Shenzhen Department of Applied Biology and Chemical Technology The Hong Kong Polytechnic University Department of Biological Sciences State University of New York at Buffalo Department of Internal Medicine Shunde Women and Children's Hospital (Maternity and Child Healthcare Hospital of Shunde Foshan) Guangdong Medical University

Skeletal muscle plays a significant role in both local and systemic energy metabolism. The current investigation aims to explore the role of the Bambi gene in skeletal muscle, focusing on its implications for muscle hypertrophy and systemic metabolism. We hypothesize that skeletal muscle-specific deletion of Bambi induces muscle hypertrophy, improves metabolic performance, and activates thermogenic adipocytes via the reprogramming of progenitor of i WAT, offering potential therapeutic strategies for metabolic syndromes. Leveraging the Chromatin immunoprecipitation(ChIP)-seq and bioinformatics analysis, Bambi gene is shown to be a direct target of HIF2α, which is further confirmed by ChIP-qPCR and promoter luciferase assay. Skeletal muscle-specific Bambi deletion led to significant muscle hypertrophy and improved metabolic parameters, even under high-fat diet conditions. This deletion induced metabolic reprogramming of stromal vascular fractions(SVFs) into thermogenic adipocytes, contributing to systemic metabolic improvements, potentially through the secretory ***, mice with skeletal muscle-specific Bambi deletion demonstrate resistance to high-fat diet-induced metabolic disorders, highlighting a potential therapeutic pathway for metabolic syndrome management. Thus, skeletal muscle-specific deletion of Bambi triggers muscle growth, enhances metabolic performance, and activates thermogenic adipocytes. These findings suggest Bambi as a novel therapeutic target for metabolic syndromes, providing new insights into the interaction between muscle hypertrophy and systemic metabolic improvement. The study underscores the potential of manipulating muscle physiology to regulate whole-body metabolism, offering a novel perspective on treating metabolic disorders.

关键词：

来源：

同方期刊数据库评论

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

Is it possible to foot reflexology for infants with sensorineural hearing loss?

引用

World Journal of Clinical Cases 2025年第2期13卷 1-4页

作者： Min Ai Hang-Hang Zhang Jun-Bang Feng Chuan-Ming Li Wen-Jing Wang Meng-Die Hu Department of Anesthesiology Nanan District People's Hospital of ChongqingChongqing 400060China Department of Breast and Thyroid Surgery Chongqing Bishan District Maternal and Child Health Care HospitalChongqing 402760China Department of Medical Imaging Chongqing University Central HospitalChongqing 400014China

Foot reflexology is a non-invasive and safe complementary therapy that works by massaging the reflex zones of the feet and exerts systemic or whole-body regulation through meridian nerve *** therapy is commonly used in the treatment of various conditions such as autism and Parkinson's ***,there is limited reporting on the use of foot reflexology therapy for infants with sensorineural hearing loss(SNHL).Currently,there is no definitive conclusion on how foot reflexology therapy can influence *** editorial holds some guiding significance regarding this clinical *** aim is to present physiological evidence of how foot reflexology therapy can impact infants with SNHL,thereby enhancing clinician’s awareness of foot reflexology in treating infants with SNHL.

关键词： Foot reflexology Sensorineural Hearing Loss Future perspectives Limitations Neural conduction

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Spatial transcriptomics combined with single-nucleus RNA sequencing reveals glial cell heterogeneity in the human spinal cord

引用

Neural Regeneration Research 2025年第11期20卷 3302-3316页

作者： Yali Chen Yiyong Wei Jin Liu Tao Zhu Cheng Zhou Donghang Zhang Department of Anesthesiology West China HospitalSichuan UniversityChengduSichuan ProvinceChina Laboratory of Anesthesia and Critical Care Medicine National-Local Joint Engineering Research Center of Translational Medicine of AnesthesiologyWest China HospitalSichuan UniversityChengduSichuan ProvinceChina Department of Anesthesiology Longgang District Maternity&Child Healthcare Hospital of Shenzhen City(Longgang Maternity and Child Institute of Shantou University Medical College)ShenzhenGuangdong ProvinceChina Department of Anesthesiology Affiliated Hospital of Zunyi Medical UniversityZunyiGuizhou ProvinceChina

Glial cells play crucial roles in regulating physiological and pathological functions,including sensation,the response to infection and acute injury,and chronic neurodegenerative *** cells include astrocytes,microglia,and oligodendrocytes in the central nervous system,and satellite glial cells and Schwann cells in the peripheral nervous *** the greater understanding of glial cell types and functional heterogeneity achieved through single-cell and single-nucleus RNA sequencing in animal models,few studies have investigated the transcriptomic profiles of glial cells in the human spinal ***,we used high-throughput single-nucleus RNA sequencing and spatial transcriptomics to map the cellular and molecular heterogeneity of astrocytes,microglia,and oligodendrocytes in the human spinal *** explore the conservation and divergence across species,we compared these findings with those from *** the human spinal cord,astrocytes,microglia,and oligodendrocytes were each divided into six distinct transcriptomic *** the mouse spinal cord,astrocytes,microglia,and oligodendrocytes were divided into five,four,and five distinct transcriptomic subclusters,*** comparative results revealed substantial heterogeneity in all glial cell types between humans and ***,we detected sex differences in gene expression in human spinal cord glial ***,in all astrocyte subtypes,the levels of NEAT1 and CHI3L1 were higher in males than in females,whereas the levels of CST3 were lower in males than in *** all microglial subtypes,all differentially expressed genes were located on the sex *** addition to sex-specific gene differences,the levels of MT-ND4,MT2A,MT-ATP6,MT-CO3,MT-ND2,MT-ND3,and MT-CO_(2) in all spinal cord oligodendrocyte subtypes were higher in females than in ***,the present dataset extensively characterizes glial cell heterogeneity and offers a valuable resource for explo

关键词： astrocyte glial cell human microglia oligodendrocyte sex differentiation single-nucleus RNA sequencing spatial transcriptomics species variation spinal cord

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Effect of a Nerve Graft Substitute Single-walled Carbon Nanotubes on Rat Pheochromocytoma Cells

引用

Journal of Wuhan University of Technology(Materials Science) 2015年第4期30卷 847-851页

作者：吴茜 ZHANG Juan 胡哲勤 maternal and child health hospital of Hubei

Carbon nanotubes （CNTs） were extensively explored for their beneficial use in nervous system tissue engineering. However, an important concern regarding the use of CNTs is their toxicity during the interaction between cells and the nano particles. The rat pheochromocytoma cell line （PC12） was co-cultured with three types of single-walled carbon nanotubes （SWNTs）, purified raw SWNTs （C）, hydroxyl purified SWNTs （C-OH） and carboxyl purified SWNTs （C-COOH） at 25 μg/mL and 100 μg/ml. The experimental results revealed that SWNTs at the concentration below 100 μg/mL did not affect the cell viability. Notably, powerful antioxidant system in nerous system tissue is able to counteract with the toxicity of CNTs, which is characterized by the prominently enhanced expression of main antioxidant enzymes （catalase （CAT）, superoxide dismutase （SOD）, glutathione peroxidase （GPx） and glutathione-S-transferase （GST））. Therefore, we believe that CNTs can be good candidates for the fabrication of biomedical scaffolds for the nerve tissue repair.

关键词： nerve graft substitute single-walled carbon nanotubes (SWNTs) oxidative stress PC12cells

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Auditory steady-state evoked response in diagnosing and evaluating hearing in infants

引用

Neural Regeneration Research 2006年第9期1卷 825-828页

作者： Fei Mai1, Xiaozhuang Zhang1, Qunxin Lai1, Yanfei Wu1, Nanping Liao2, Yi Ye3, Zhenghui Zhong4 1Auditory Center, guangdong maternal and child health Care hospital, Guangzhou 510010, guangdong Province, China 2Department of child health Care, Shunde maternal and child health Care hospital, Shunde 528300, guangdong Province, China 3Department of child health Care, Nanhai maternal and child health Care hospital, Nanhai 528200, guangdong Province, China 4Department of child health Care, Huadu District maternal and child health Care hospital, Guangzhou 510800, guangdong Province, China Auditory Center Guangdong Maternal and Child Health Care Hospital Guangzhou 510010 Guangdong Province China Department of child health Care Shunde Maternal and Child Health Care Hospital Shunde 528300 Guangdong Province China Department of child health Care Nanhai Maternal and Child Health Care Hospital Nanhai 528200 Guangdong Province China Department of child health Care Huadu District Maternal and Child Health Care Hospital Guangzhou 510800 Guangdong Province China

BACKGROUND: Auditory steady-state evoked response (ASSR) is one of the new objective electrophysiological methods to test hearing in infants. It can provide a reliable and complete audiogram with specific frequency to help the hearing diagnosis and rehabilitation of hearing and languaging following auditory screening. OBJECTIVE: To compare the response threshold of ASSR with auditory threshold of visual reinforcement audiometry (VRA) in infants failed in the hearing screening for investigating their hearing loss. DESIGN: A comparative observation. SETTINGS: maternal and child health care hospitals of guangdong province, Shunde city, Nanhai city and Huadu district. PARTICIPANTS: Totally 321 infants of 0-3 years undergoing ASSR test were selected from the Hearing Center of guangdong maternal and child health Care hospital from January 2002 to December 2004. Informed consents were obtained from their guardians. There were 193 cases (60.2%) of 0-6 months, 31 cases (9.7%) of 7-12 months, 17 cases (5.3%) of 13-18 months, 14 cases (4.4%) of 19-24 months, 33 cases of 25-30 months, and 33 cases (10.2%) of 31-36 months. METHODS: ① The 321 infants failed in the hearing screening were tested under sleeping status, the ranges of response threshold distribution in ASSR of different frequencies were analyzed in each age group. ② The infants above 2 years old were also tested with VRA, and their response thresholds were compared between VRA and ASSR. ③ Evaluative standards: The response threshold was 91 dB for extremely severe hearing loss. MAIN OUTCOME MEASURES: ① ASSR results of the infants failed in the screening; ② Proportion of cases of each response threshold in each age group; ③ Comparison of ASSR response thresholds and VRA auditory thresholds in the infants of 2-3 years old. RESULTS: ①The response threshold was < 30 dB in 47.4% of the 321

关键词： ASSR Auditory steady-state evoked response in diagnosing and evaluating hearing in infants

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province,China

引用

Biomedical and Environmental Sciences 2023年第2期36卷 127-134页

作者： XI Hui LIU Qin XIE Dong Hua ZHOU Xu TANG Wang Lan TANG De Guo ZENG Chun Yan WANG Qiong NIE Xing Hui PENG Jin Ping GAO Xiao Ya WU Hong Liang ZHANG Hao Qing QIU Li FENG Zong Hui WANG Shu Yuan ZHOU Shu Xiang HE Jun ZHOU Shi Hao ZHOU Fa Qun ZHENG Jun Qing WANG Shun Yao CHEN Shi Ping ZHENG Zhi Fen MA Xiao Yuan FANG Jun Qun LIANG Chang Biao WANG Hua NHC Key Laboratory of Birth Defect for Research and Prevention Hunan Provincial Maternal and Child Health Care HospitalChangsha 410028HunanChina Yongzhou hospital for maternal and child health Care Yongzhou 425000HunanChina Changde hospital for maternal and child health Care Changde 415099HunanChina Hengyang hospital for maternal and child health Care Hengyang 421009HunanChina Shaoyang hospital for maternal and child health Care Shaoyang 422001HunanChina Yiyang hospital for maternal and child health Care Yiyang 413099HunanChina Yueyang hospital for maternal and child health Care Yueyang 414021HunanChina Center of Prenatal Diagnosis Chenzhou No.1 People’s HospitalChenzhou 423099HunanChina Loudi hospital for maternal and child health Care Loudi 417599HunanChina Huaihua hospital for maternal and child health Care Huaihua 418099HunanChina Xiangtan hospital for maternal and child health Care Xiangtan 411104HunanChina Zhuzhou hospital for maternal and child health Care Zhuzhou 412008HunanChina Changsha hospital for maternal and child health Care Changsha 410007HunanChina Xiangxi Tujia and Miao Autonomous Prefecture hospital for maternal and child health Care Jishou 416000HunanChina Zhang Jiajie Centre for maternal and child health family planning services Zhangjiajie 427299HunanChina BGI Genomics BGI-ShenzhenShenzhen 518083GuangdongChina Clinical Laboratory of BGI health BGI-ShenzhenShenzhen 518083GuangdongChina BGI-Wuhan Clinical Laboratories BGI-ShenzhenWuhan 430074HubeiChina SEBIA Representative Office Shanghai 200001China

Objective This study was aimed at investigating the carrier rate of,and molecular variation in,α-andβ-globin gene mutations in Hunan *** We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan *** screening was performed,and molecular parameters were *** The overall carrier rate of thalassemia was 7.1%,including 4.83%forα-thalassemia,2.15%forβ-thalassemia,and 0.12%for bothα-andβ-*** highest carrier rate of thalassemia was in Yongzhou(14.57%).The most abundant genotype ofα-thalassemia andβ-thalassemia was-α^(3.7)/αα(50.23%)andβ^(IVS-Ⅱ-654)/β^(N)(28.23%),***α-globin mutations[CD108(ACC>AAC),CAP+29(G>C),Hb Agrinio and Hb Cervantes]and sixβ-globin mutations[CAP+8(C>T),IVS-Ⅱ-848(C>T),-56(G>C),beta nt-77(G>C),codon 20/21(-TGGA)and Hb Knossos]had not previously been identified in ***,this study provides the first report of the carrier rates of abnormal hemoglobin variants andα-globin triplication in Hunan Province,which were 0.49%and 1.99%,*** Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan *** results should facilitate genetic counselling and the prevention of severe thalassemia in this region.

关键词： Thalassemia Carrier rate Molecular spectrum Abnormal hemoglobin variants α-globin triplication

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Clinical Manifestation and Laboratory Characteristics of SARS-CoV-2Infection in Pregnant Women

引用

Virologica Sinica 2020年第3期35卷 305-310页

作者： Chunchen Wu Wenzhong Yang Xiaoxue Wu Tianzhu Zhang Yaoyao Zhao Wei Ren Jianbo Xia Department of Laboratory Medicine Maternal and Child Health Hospital of Hubei ProvinceWuhan 430070China Department of Radiology Maternal and Child Health Hospital of Hubei ProvinceWuhan 430070China Department of Obstetrics Maternal and Child Health Hospital of Hubei ProvinceWuhan 430070China

The severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) epidemic has become a major challenge to public health in China and other countries, considering its pathogenicity across all age groups. Pregnancy is a unique physiological condition, and is characterized by altered immunity and elevated hormone levels to actively tolerate the semiallogeneic fetus, which undergoes a sudden and substantial fluctuation during the immediate postpartum period. Changes in clinical features, laboratory characteristics, and imaging features of pregnant women during the pre-partum and postpartum periods require further elucidation. Here, we retrospectively analyzed the clinical features, laboratory characteristics, and imaging features of eight pregnant cases of SARS-CoV-2 infection during the pre-partum and post-partum periods. Our results showed that four of the eight pregnant women were asymptomatic before delivery but became symptomatic post-partum. Correspondingly, white blood cell(WBC) counts increased and lymphocyte(LYMPH) counts decreased. C-reactive protein(CRP) levels in the serum also increased to a higher level than those in general ***, it is imperative to closely monitor laboratory parameters including the WBC count, LYMPH count, and CRP,along with other imaging features in chest CT scans, to promptly prevent, diagnose, and treat a SARS-CoV-2 infection during pregnancy.

关键词： SARS-CoV-2 Pregnant women Clinical manifestation Laboratory characteristics Immunity

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Management of primary ciliary dyskinesia/Kartagener＇s syndrome in infertile male patients and current progress in defining the underlying genetic mechanism

引用

Asian Journal of Andrology 2014年第1期16卷 101-106页

作者： Yan-Wei Sha Lu Ding Ping Li Reproductive Medicine Center Maternal and Child Health Hospital of Xiamen Xiamen China

Kartagener＇s syndrome （KS） is an autosomal recessive genetic disease accounting for approximately 50% of the cases of primary ciliary dyskinesia （PCD）. As it is accompanied by many complications, PCD/KS severely affects the patient＇s quality of life. Therapeutic approaches for PCD/KS aim to enhance prevention, facilitate rapid definitive diagnosis, avoid misdiagnosis, maintain active treatment, control infection and postpone the development of lesions. In male patients, sperm flagella may show impairment in or complete absence of the ability to swing, which ultimately results in male infertility. Assisted reproductive technology will certainly benefit such patients. For PCD/KS patients with completely immotile sperm, intracytoplasmic sperm injection may be very important and even indispensable. Considering the number of PCD/KS susceptibility genes and mutations that are being identified, more extensive genetic screening is indispensable in patients with these diseases. Moreover, further studies into the potential molecular mechanisms of these diseases are required. In this review, we summarize the available information on various aspects of this disease in order to delineate the therapeutic objectives more clearly, and clarify the efficacy of assisted reproductive technology as a means of treatment for patients with PCD/KS-associated infertility.

关键词： assisted reproductive technology clinical diagnosis and treatment genetic mechanism Kartagener's syndrome malefertifity, primary ciliary dyskinesia

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China

引用

World Journal of Pediatrics 2023年第7期19卷 663-673页

作者： Ru-Lai Yang Gu-Ling Qian Ding-Wen Wu Jing-Kun Miao Xue Yang Ben-Qing Wu Ya-Qiong Yan Hai-Bo Li Xin-Mei Mao Jun He Huan Shen Hui Zou Shu-Yuan Xue Xiao-Ze Li Ting-Ting Niu Rui Xiao Zheng-Yan Zhao National Clinical Research Center for child health Children's HospitalZhejiang University School of MedicineHangzhouChina Chongqing health Center for Women and children Neonatal Screening CenterChongqingChina Guiyang maternal and child health hospital GuiyangChina University of the Chinese Academy of Science Shenzhen HospitalShenzhen 518000GuangdongChina Shanxi children's hospital Shanxi maternal and child health hospital TaiyuanShanxiChina The Central Laboratory of Birth Defects Prevention and Control Ningbo Women and Children's HospitalNingbo 315012ZhejiangChina maternal and child health hospital of Ningxia Hui Autonomous Region YinchuanChina Changsha maternal and child health hospital ChangshaHunanChina Yunnan maternal and child health hospital KunmingYunanChina Jinan Maternity and child Care hospital Affiliated to Shandong First Medical University JinanShandongChina Urumqi maternal and child health Care hospital Xinjiang Uygur Autonomous RegionUrumqi CityChina Medical Genetic Center Changzhi Maternal and Child Health Care HospitalChangzhiShanxiChina maternal and child health Care hospital of Shandong Province JinanShandongChina National Engineering Laboratory for Key Technology of Birth Defect Control and Prevention Screening and Diagnostic R and D CenterHangzhouChina

Background Newborn screening(NBS)is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn *** develop-ment of next-generation sequencing(NGS)technology provides new opportunities to expand current newborn screening *** We designed a a newborn genetic screening(NBGS)panel targeting 135 genes associated with 75 inborn disorders by multiplex PCR combined with *** this panel,a large-scale,multicenter,prospective multidisease analysis was conducted on dried blood spot(DBS)profiles from 21,442 neonates *** We presented the positive detection rate and carrier frequency of diseases and related variants in different regions;and 168(0.78%)positive cases were ***-6-Phosphate Dehydrogenase deficiency(G6PDD)and phenylketonuria(PKU)had higher prevalence rates,which were significantly different in different *** positive detection of G6PD variants was quite common in south China,whereas PAH variants were most commonly identified in north *** addi-tion,NBGS identified 3 cases with DUOX2 variants and one with SLC25A13 variants,which were normal in conventional NBS,but were confirmed later as abnormal in repeated biochemical testing after *** percent of high-frequency gene carriers and 60%of high-frequency variant carriers had obvious regional *** the premise that there was no significant difference in birth weight and gestational age,the biochemical indicators of SLC22A5 c.1400C>G and ACADSB c.1165A>G carriers were significantly different from those of *** We demonstrated that NBGS is an effective strategy to identify neonates affected with treatable diseases as a supplement to current NBS *** data also showed that the prevalence of diseases has significant regional charac-teristics,which provides a theoretical basis for screening diseases in di

关键词： Monogenic genetic diseases Newborn screening Next-generation sequencing Monogenic genetic diseases Regional features

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：