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Journal of Inborn Errors of Metabolism and Screening最新文献

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Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients Lesch-Nyhan病及其变异:阿根廷患者次黄嘌呤-鸟嘌呤磷酸核糖基转移酶缺乏的表型和突变谱
Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-JIEMS-2020-0027
L. Laróvere, L. Fairbanks, H. A. Jinnah, N. Guelbert, E. Escuredo, Adriana Becerra, R. Kremer
{"title":"Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients","authors":"L. Laróvere, L. Fairbanks, H. A. Jinnah, N. Guelbert, E. Escuredo, Adriana Becerra, R. Kremer","doi":"10.1590/2326-4594-JIEMS-2020-0027","DOIUrl":"https://doi.org/10.1590/2326-4594-JIEMS-2020-0027","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"44 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84776244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical Manifestation in Females with X-linked Metabolic Disorders: Genetic and Pathophysiological Considerations 女性x连锁代谢紊乱的临床表现:遗传和病理生理考虑
Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-JIEMS-2020-0024
Michael Beck
{"title":"Clinical Manifestation in Females with X-linked Metabolic Disorders: Genetic and Pathophysiological Considerations","authors":"Michael Beck","doi":"10.1590/2326-4594-JIEMS-2020-0024","DOIUrl":"https://doi.org/10.1590/2326-4594-JIEMS-2020-0024","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"38 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77337839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
25 Years of Newborn Screening in Uruguay 乌拉圭新生儿筛查25年
Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-JIEMS-2021-0008
C. Queijo, Aida Lemes, G. Queiruga
{"title":"25 Years of Newborn Screening in Uruguay","authors":"C. Queijo, Aida Lemes, G. Queiruga","doi":"10.1590/2326-4594-JIEMS-2021-0008","DOIUrl":"https://doi.org/10.1590/2326-4594-JIEMS-2021-0008","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"14 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73704457","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A New Fluorescent Method to Detect Sulfamidase Activity in Blood, Tissue Extracts and Dried Blood Spots 一种检测血液、组织提取物和干血斑中磺胺酶活性的新荧光方法
Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-JIEMS-2020-0021
Xingxuan He, E. Schuchman, C. Simonaro
{"title":"A New Fluorescent Method to Detect Sulfamidase Activity in Blood, Tissue Extracts and Dried Blood Spots","authors":"Xingxuan He, E. Schuchman, C. Simonaro","doi":"10.1590/2326-4594-JIEMS-2020-0021","DOIUrl":"https://doi.org/10.1590/2326-4594-JIEMS-2020-0021","url":null,"abstract":" Abstract Mucopolysaccharidosis type IIIA (MPS IIIA) is a lysosomal storage disorder due to the deficient activity of sulfamidase (SGSH). Traditionally, measurement of this enzymatic activity has been performed using a fluorescently (4-MU) labeled glycoside substrate. While this substrate is inexpensive and readily available, the current method requires a 2-step procedure that is performed over 2 days. Here we report a new and simplified procedure using the 4-MU substrate. Major advantages of this assay method over the existing fluorescent method include a single step vs. 2-step procedure, an incubation time of 1 hour, and high sensitivity. The reaction is also run on UPLC equipment, which is available in most research labs and permits separation of the endogenous, autofluorescent material from the 4-MU signal. This assay method was developed using the MPS IIIA mouse model, and was validated using mouse plasma, liver and brain extracts, and dried blood spots. Human MPS IIIA skin fibroblasts and dried blood spots also were used to validate the","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"140 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80412958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Amino Acids and Acylcarnitines Reference Values for Neonatal Screening of Inborn Errors of Metabolism in Colombia by Tandem Mass Spectrometry 氨基酸和酰基肉碱参考值在哥伦比亚新生儿的串联质谱筛查先天性代谢错误
Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-JIEMS-2021-0012
Antonio Bermúdez, Dora Robayo, Gloria Porras, María Amparo Acosta
{"title":"Amino Acids and Acylcarnitines Reference Values for Neonatal Screening of Inborn Errors of Metabolism in Colombia by Tandem Mass Spectrometry","authors":"Antonio Bermúdez, Dora Robayo, Gloria Porras, María Amparo Acosta","doi":"10.1590/2326-4594-JIEMS-2021-0012","DOIUrl":"https://doi.org/10.1590/2326-4594-JIEMS-2021-0012","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"10 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72461210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
A Novel Mutation (p.Met1?) of a Cuban Patient in the NAGLU Gene with Mucopolysaccharidosis IIIB 古巴粘多糖病IIIB患者NAGLU基因新突变(p.Met1?
Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-jiems-2021-0013
Laritza Martínez Rey, Tatiana Acosta Sánchez, Deynis Carmenate Naranjo, H. V. Cuesta
{"title":"A Novel Mutation (p.Met1?) of a Cuban Patient in the NAGLU Gene with Mucopolysaccharidosis IIIB","authors":"Laritza Martínez Rey, Tatiana Acosta Sánchez, Deynis Carmenate Naranjo, H. V. Cuesta","doi":"10.1590/2326-4594-jiems-2021-0013","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2021-0013","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"65 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79666694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Parenting Styles and Coping Strategies in PKU Early Detected Children 北京大学早期发现儿童的父母教养方式与应对策略
Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-JIEMS-2020-0014
M. P. Campos, Rosa Enacan, M. Valle, Ana Chiesa
{"title":"Parenting Styles and Coping Strategies in PKU Early Detected Children","authors":"M. P. Campos, Rosa Enacan, M. Valle, Ana Chiesa","doi":"10.1590/2326-4594-JIEMS-2020-0014","DOIUrl":"https://doi.org/10.1590/2326-4594-JIEMS-2020-0014","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"99 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77012027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Depression: The Hidden Problem in Fabry Disease. A Review 抑郁症:法布里病的隐藏问题。回顾
Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-jiems-2021-0015
A. Chertcoff, L. L. Cejas, C. Marchesoni, R. Reisin
{"title":"Depression: The Hidden Problem in Fabry Disease. A Review","authors":"A. Chertcoff, L. L. Cejas, C. Marchesoni, R. Reisin","doi":"10.1590/2326-4594-jiems-2021-0015","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2021-0015","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"65 2 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77906813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Clinical and Genetic Characterization and Biochemical Correlation at Presentation in 48 Patients Diagnosed with Urea Cycle Disorders at the Hospital Juan P Garrahan, Argentina 阿根廷Juan P Garrahan医院48例尿素循环障碍患者的临床、遗传特征和生化相关性分析
Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-jiems-2020-0026
Ana Clara Bernal, Maria Cruz Tubio, C. Crespo, H. Eiroa
{"title":"Clinical and Genetic Characterization and Biochemical Correlation at Presentation in 48 Patients Diagnosed with Urea Cycle Disorders at the Hospital Juan P Garrahan, Argentina","authors":"Ana Clara Bernal, Maria Cruz Tubio, C. Crespo, H. Eiroa","doi":"10.1590/2326-4594-jiems-2020-0026","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2020-0026","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"7 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80106875","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Twenty Years of Neonatal Screening for Sickle Cell Disease in Brazil: The Challenges of a Continental Country with High Genetic Heterogeneity 巴西新生儿镰状细胞病筛查二十年:一个具有高遗传异质性的大陆国家的挑战
Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-JIEMS-2021-0002
Helena Pimentel dos Santos, C. R. Domingos, S. Castro
{"title":"Twenty Years of Neonatal Screening for Sickle Cell Disease in Brazil: The Challenges of a Continental Country with High Genetic Heterogeneity","authors":"Helena Pimentel dos Santos, C. R. Domingos, S. Castro","doi":"10.1590/2326-4594-JIEMS-2021-0002","DOIUrl":"https://doi.org/10.1590/2326-4594-JIEMS-2021-0002","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"18 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73764775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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