Pub Date : 2021-01-01DOI: 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}
Pub Date : 2021-01-01DOI: 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}
Pub Date : 2021-01-01DOI: 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}
Pub Date : 2021-01-01DOI: 10.1590/2326-4594-JIEMS-2020-0021
Xingxuan He, E. Schuchman, C. Simonaro
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
{"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}
Pub Date : 2021-01-01DOI: 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}
Pub Date : 2021-01-01DOI: 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}
Pub Date : 2021-01-01DOI: 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}
Pub Date : 2021-01-01DOI: 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}
Pub Date : 2021-01-01DOI: 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}
Pub Date : 2021-01-01DOI: 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}
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