المؤلفون: Kubaski F; Greenwood Genetic Center, Biochemical Genetics Laboratory, Greenwood, USA; BioDiscovery Laboratory, HCPA, Porto Alegre, Brazil; Medical Genetics Service, HCPA, Porto Alegre, Brazil; PPGBM, UFRGS, Porto Alegre, Brazil. Electronic address: fkubaski@ggc.org., Sousa I; APAE Salvador, Salvador, Brazil. Electronic address: ines.sousa@apaesalvador.org.br., Amorim T; APAE Salvador, Salvador, Brazil; Colegiado de Medicina, Universidade do Estado da Bahia, Salvador, Brazil. Electronic address: tatiana.amorim@apaesalvador.org.br., Pereira D; Innovatox, Sao Paulo, Brazil. Electronic address: danilopereira@innovatox.com.br., Silva C; Waters technologies do Brazil, Sao Paulo, Brazil. Electronic address: Camilo_Silva@waters.com., Chaves V; Waters technologies do Brazil, Sao Paulo, Brazil. Electronic address: vitor_chaves@waters.com., Brusius-Facchin AC; BioDiscovery Laboratory, HCPA, Porto Alegre, Brazil; Medical Genetics Service, HCPA, Porto Alegre, Brazil. Electronic address: afacchin@hcpa.edu.br., Netto ABO; BioDiscovery Laboratory, HCPA, Porto Alegre, Brazil; PPGBM, UFRGS, Porto Alegre, Brazil. Electronic address: alicenetto@hcpa.edu.br., Soares J; BioDiscovery Laboratory, HCPA, Porto Alegre, Brazil., Vairo F; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic, Rochester, USA. Electronic address: vairo.filippo@mayo.edu., Poletto E; Medical Genetics Service, HCPA, Porto Alegre, Brazil; PPGBM, UFRGS, Porto Alegre, Brazil., Trometer J; Perkin Elmer, Waltham, USA. Electronic address: joe.trometer@perkinelmer.com., Souza A; Perkin Elmer, Sao Paulo, Brazil. Electronic address: alexandre.souza@perkinelmer.com., Ranieri E; Women's and Children Hospital, Adelaide, Australia. Electronic address: Enzo.Ranieri@sa.gov.au., Polo G; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children's Health, University Hospital of Padova, Padova, Italy., Hong X; Department of Chemistry, University of Washington, Seattle, USA; Department of Pathology and Laboratory of Medicine, Children's Hospital of Philadelphia, Philadelphia, USA. Electronic address: hongx@chop.edu., Herbst ZM; Department of Chemistry, University of Washington, Seattle, USA. Electronic address: zherbst@uw.edu., Burlina A; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children's Health, University Hospital of Padova, Padova, Italy. Electronic address: alberto.burlina@unipd.it., Gelb MH; Department of Chemistry, University of Washington, Seattle, USA. Electronic address: gelb@uw.edu., Giugliani R; BioDiscovery Laboratory, HCPA, Porto Alegre, Brazil; Medical Genetics Service, HCPA, Porto Alegre, Brazil; PPGBM, UFRGS, Porto Alegre, Brazil; DASA, Sao Paulo, Brazil; Casa dos Raros, Porto Alegre, Brazil. Electronic address: rgiugliani@hcpa.edu.br.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2023 Sep-Oct; Vol. 140 (1-2), pp. 107654. Date of Electronic Publication: 2023 Jul 13.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Neonatal Screening*/methods , Fabry Disease*/diagnosis, Humans ; Infant, Newborn ; Pilot Projects ; Tandem Mass Spectrometry/methods ; Brazil/epidemiology

المؤلفون: Elias DE; Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC), Centro de Educación Médica e Investigaciones Clínicas-Consejo Nacional de Investigaciones Científicas Y Técnicas (CEMIC-CONICET), Galvan 4102 (C1431FWO), Ciudad Autónoma de Buenos Aires, Argentina. darioezequielelias@protonmail.com., Santos MR; Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC), Centro de Educación Médica e Investigaciones Clínicas-Consejo Nacional de Investigaciones Científicas Y Técnicas (CEMIC-CONICET), Galvan 4102 (C1431FWO), Ciudad Autónoma de Buenos Aires, Argentina.; Comisión de Investigaciones Científicas, Buenos Aires, Argentina.; Instituto Multidisciplinario de Biología Celular, Buenos Aires, Argentina., Campaña H; Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC), Centro de Educación Médica e Investigaciones Clínicas-Consejo Nacional de Investigaciones Científicas Y Técnicas (CEMIC-CONICET), Galvan 4102 (C1431FWO), Ciudad Autónoma de Buenos Aires, Argentina.; Comisión de Investigaciones Científicas, Buenos Aires, Argentina., Poletta FA; Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC), Centro de Educación Médica e Investigaciones Clínicas-Consejo Nacional de Investigaciones Científicas Y Técnicas (CEMIC-CONICET), Galvan 4102 (C1431FWO), Ciudad Autónoma de Buenos Aires, Argentina.; Instituto Nacional de Genética Médica Populacional (INAGEMP), CEMIC-CONICET, Ciudad Autónoma de Buenos Aires, Argentina., Heisecke SL; Dirección de Investigación, CEMIC-CONICET, Ciudad Autónoma de Buenos Aires, Argentina., Gili JA; Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC), Centro de Educación Médica e Investigaciones Clínicas-Consejo Nacional de Investigaciones Científicas Y Técnicas (CEMIC-CONICET), Galvan 4102 (C1431FWO), Ciudad Autónoma de Buenos Aires, Argentina.; Instituto Académico Pedagógico de Ciencias Humanas, Universidad Nacional de Villa María, Córdoba, Argentina., Ratowiecki J; Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC), Centro de Educación Médica e Investigaciones Clínicas-Consejo Nacional de Investigaciones Científicas Y Técnicas (CEMIC-CONICET), Galvan 4102 (C1431FWO), Ciudad Autónoma de Buenos Aires, Argentina., Cosentino V; Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC), Centro de Educación Médica e Investigaciones Clínicas-Consejo Nacional de Investigaciones Científicas Y Técnicas (CEMIC-CONICET), Galvan 4102 (C1431FWO), Ciudad Autónoma de Buenos Aires, Argentina.; Hospital Interzonal General de Agudos Luisa C. de Gandulfo, Buenos Aires, Argentina., Uranga R; Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC), Centro de Educación Médica e Investigaciones Clínicas-Consejo Nacional de Investigaciones Científicas Y Técnicas (CEMIC-CONICET), Galvan 4102 (C1431FWO), Ciudad Autónoma de Buenos Aires, Argentina.; Hospital San Juan de Dios, Buenos Aires, Argentina., Málaga DR; Hospital de Clínicas de Porto Alegre (HCPA), Serviço De Genética Médica, Porto Alegre, Rio Grande do Sul, Brasil., Netto ABO; Hospital de Clínicas de Porto Alegre (HCPA), Serviço De Genética Médica, Porto Alegre, Rio Grande do Sul, Brasil., Brusius-Facchin AC; Hospital de Clínicas de Porto Alegre (HCPA), Serviço De Genética Médica, Porto Alegre, Rio Grande do Sul, Brasil., Saleme C; Instituto de Maternidad Y Ginecología Nuestra Señora de Las Mercedes, Tucumán, Argentina., Rittler M; Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC), Centro de Educación Médica e Investigaciones Clínicas-Consejo Nacional de Investigaciones Científicas Y Técnicas (CEMIC-CONICET), Galvan 4102 (C1431FWO), Ciudad Autónoma de Buenos Aires, Argentina.; Hospital Materno Infantil Ramón Sardá, Ciudad Autónoma de Buenos Aires, Argentina., Krupitzki HB; Dirección de Investigación, CEMIC-CONICET, Ciudad Autónoma de Buenos Aires, Argentina.; Instituto Universitario, Centro de Educación Médica E Investigaciones Clínicas (CEMIC-IUC), Ciudad Autónoma de Buenos Aires, Argentina., Camelo JSL; Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC), Centro de Educación Médica e Investigaciones Clínicas-Consejo Nacional de Investigaciones Científicas Y Técnicas (CEMIC-CONICET), Galvan 4102 (C1431FWO), Ciudad Autónoma de Buenos Aires, Argentina.; Instituto Nacional de Genética Médica Populacional (INAGEMP), CEMIC-CONICET, Ciudad Autónoma de Buenos Aires, Argentina., Gimenez LG; Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC), Centro de Educación Médica e Investigaciones Clínicas-Consejo Nacional de Investigaciones Científicas Y Técnicas (CEMIC-CONICET), Galvan 4102 (C1431FWO), Ciudad Autónoma de Buenos Aires, Argentina.; Instituto Nacional de Genética Médica Populacional (INAGEMP), CEMIC-CONICET, Ciudad Autónoma de Buenos Aires, Argentina.

المصدر: Journal of community genetics [J Community Genet] 2022 Dec; Vol. 13 (6), pp. 557-565. Date of Electronic Publication: 2022 Aug 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Germany NLM ID: 101551501 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1868-310X (Print) Linking ISSN: 1868310X NLM ISO Abbreviation: J Community Genet Subsets: PubMed not MEDLINE

المؤلفون: Kubaski F; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; PPGMB, UFRGS, Porto Alegre, Brazil., Burlina A; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neontal Screening, Department of Women and Children's Health, DIDAS Servizi di Diagnostica Integrata, University Hospital Padova, Padua, Italy. alberto.burlina@unipd.it., Pereira D; Waters Technologies Brazil, São Paulo, Brazil.; Innovatox, São Paulo, Brazil., Silva C; Waters Technologies Brazil, São Paulo, Brazil., Herbst ZM; Department of Chemistry, University of Washington, Seattle, USA., Trapp FB; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Michelin-Tirelli K; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Lopes FF; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Burin MG; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Brusius-Facchin AC; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Netto ABO; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; PPGMB, UFRGS, Porto Alegre, Brazil., Poletto E; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; PPGMB, UFRGS, Porto Alegre, Brazil., Bernardes TM; Hospital Infantil Sabará, São Paulo, Brazil., Carvalho GS; Hospital Regional de Caguatinga, Brasilia, Brazil., Sorte NB; HUPES, Salvador, Brazil., Ferreira FN; Private Clinic, São Paulo, Brazil., Perin N; Hospital Infantil Joana Gusmão, Florianópolis, Brazil., Clivati MR; Centro Clivati de Neurologia, Curitiba, Brazil., de Santana MTS; Clínica de Pediatria e Adolescentes, Salvador, Brazil., Lobos SFG; Hemocentro da Bahia, Salvador, Brazil., Leão EKEA; HUPES, Salvador, Brazil., Coutinho MP; Centro de Referência e Tratamento da Criança, Campos dos Goitacazes, Brazil., Pinos PV; Hajar Hospital, Tehran, Iran., Santos MLSF; Hospital Infantil Pequeno Príncipe, Curitiba, Brazil., Penatti DA; Hospital Infantil Pequeno Príncipe, Curitiba, Brazil., Lourenço CM; Centro Universitário Estácio de Ribeirão Preto, Ribeirão Preto, Brazil., Polo G; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neontal Screening, Department of Women and Children's Health, DIDAS Servizi di Diagnostica Integrata, University Hospital Padova, Padua, Italy., Giugliani R; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; PPGMB, UFRGS, Porto Alegre, Brazil.; Dasa, São Paulo, Brazil.; Casa dos Raros, Porto Alegre, Brazil.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Nov 08; Vol. 17 (1), pp. 407. Date of Electronic Publication: 2022 Nov 08.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Niemann-Pick Disease, Type A* , Niemann-Pick Diseases*, Infant, Newborn ; Humans ; Chromatography, Liquid/methods ; Tandem Mass Spectrometry/methods ; Sphingomyelin Phosphodiesterase

المؤلفون: Kubaski F; BioDiscovery Laboratory, Hospital de Clinicas de Porto Alegre, Porto Alegre 90035-903, Brazil.; PPGBM, UFRGS, Porto Alegre 91501-970, Brazil.; Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil., Burlina A; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Child's Health, University of Padova, 35129 Padova, Italy., Polo G; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Child's Health, University of Padova, 35129 Padova, Italy., Pereira D; Waters Technologies Do Brasil, São Paulo 06455-000, Brazil.; Innovatox, São Paulo 18047-720, Brazil., Herbst ZM; Department of Chemistry, University of Washington, Seattle, WA 98105-6250, USA., Silva C; Waters Technologies Do Brasil, São Paulo 06455-000, Brazil., Trapp FB; Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil., Michelin-Tirelli K; Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil., Lopes FF; Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil., Burin MG; Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil., Brusius-Facchin AC; BioDiscovery Laboratory, Hospital de Clinicas de Porto Alegre, Porto Alegre 90035-903, Brazil.; Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil., Netto ABO; PPGBM, UFRGS, Porto Alegre 91501-970, Brazil.; Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil., Faqueti L; BioDiscovery Laboratory, Hospital de Clinicas de Porto Alegre, Porto Alegre 90035-903, Brazil., Iop GD; BioDiscovery Laboratory, Hospital de Clinicas de Porto Alegre, Porto Alegre 90035-903, Brazil., Poletto E; PPGBM, UFRGS, Porto Alegre 91501-970, Brazil., Giugliani R; BioDiscovery Laboratory, Hospital de Clinicas de Porto Alegre, Porto Alegre 90035-903, Brazil.; PPGBM, UFRGS, Porto Alegre 91501-970, Brazil.; Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil.; DASA, São Paulo 06455-010, Brazil.; INAGEMP, Porto Alegre 90035-003, Brazil.

المصدر: International journal of neonatal screening [Int J Neonatal Screen] 2022 Jun 28; Vol. 8 (3). Date of Electronic Publication: 2022 Jun 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE

المؤلفون: Kubaski F; PPGBM UFRGS Porto Alegre Brazil.; Medical Genetics Service HCPA Porto Alegre Brazil.; INAGEMP Porto Alegre Brazil., Herbst ZM; Department of Chemistry University of Washington Seattle Washington USA., Burin MG; Medical Genetics Service HCPA Porto Alegre Brazil., Michelin-Tirelli K; Medical Genetics Service HCPA Porto Alegre Brazil., Trapp FB; Medical Genetics Service HCPA Porto Alegre Brazil., Gus R; Medical Genetics Service HCPA Porto Alegre Brazil., Netto ABO; PPGBM UFRGS Porto Alegre Brazil.; Medical Genetics Service HCPA Porto Alegre Brazil., Brusius-Facchin AC; Medical Genetics Service HCPA Porto Alegre Brazil., Leistner-Segal S; Medical Genetics Service HCPA Porto Alegre Brazil.; PPGCM UFRGS Porto Alegre Brazil., Sanseverino MT; Medical Genetics Service HCPA Porto Alegre Brazil.; Escola de Medicina PUCRS Porto Alegre Brazil., de Souza CMF; Medical Genetics Service HCPA Porto Alegre Brazil., Wilke MVMB; Medical Genetics Service HCPA Porto Alegre Brazil.; PPGCM UFRGS Porto Alegre Brazil., Oliveira T; Medical Genetics Service HCPA Porto Alegre Brazil., Magalhães JAA; Fetal Medicine Unit HCPA, UFRGS Porto Alegre Brazil., Giugliani R; PPGBM UFRGS Porto Alegre Brazil.; Medical Genetics Service HCPA Porto Alegre Brazil.; INAGEMP Porto Alegre Brazil.; PPGCM UFRGS Porto Alegre Brazil.; Department of Genetics UFRGS Porto Alegre Brazil.

المصدر: JIMD reports [JIMD Rep] 2022 Jan 19; Vol. 63 (2), pp. 162-167. Date of Electronic Publication: 2022 Jan 19 (Print Publication: 2022).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

المؤلفون: Josahkian JA; Department of Clinical Medicine, Hospital Universitário de Santa Maria (HUSM), Santa Maria, Rio Grande do Sul, Brazil.; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil., Brusius-Facchin AC; Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil., Netto ABO; Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil.; National Institute on Population Medical Genetics, INAGEMP, Porto Alegre, Rio Grande do Sul, Brazil.; Graduate in Biological Sciences, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil., Leistner-Segal S; Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil.; National Institute on Population Medical Genetics, INAGEMP, Porto Alegre, Rio Grande do Sul, Brazil., Málaga DR; Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil.; Research and Development, Grupo Fleury, São Paulo, São Paulo, Brazil., Burin MG; Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil., Michelin-Tirelli K; Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil., Trapp FB; Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil., Cardoso-Dos-Santos AC; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil.; National Institute on Population Medical Genetics, INAGEMP, Porto Alegre, Rio Grande do Sul, Brazil., Ribeiro EM; Serviço de Genética Médica, Hospital Infantil Albert Sabin, Fortaleza, Ceará, Brazil., Kim CA; Genetic Unit, Pediatric Department, HC-FMUSP, São Paulo University, São Paulo, São Paulo, Brazil., de Siqueira ACM; Instituto de Medicina Integral Professor Fernando Figueira (IMIP), Recife, Pernambuco, Brazil., Santos ML; Neuropediatric Division, Hospital Pequeno Príncipe, Curitiba, Paraná, Brazil., do Valle DA; Neuropediatric Division, Hospital Pequeno Príncipe, Curitiba, Paraná, Brazil., da Silva RTB; State University of Rio de Janeiro, Rio de Janeiro, Rio de Janeiro, Brazil., Horovitz DDG; Medical Genetics Department, National Institute of Women, Children and Adolescents Health Fernandes Figueira-Fiocruz/Reference Center for Rare Diseases, Rio de Janeiro, Rio de Janeiro, Brazil., de Medeiros PFV; Unidade Acadêmica de Medicina, Hospital Universitário Alcides Carneiro, Universidade Federal de Campina Grande, Campina Grande, Paraíba, Brazil., de Souza CFM; Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil., Giuliani LR; Hospital Universitário Maria Aparecida Pedrossian (HUMAP), UFMS, Campo Grande, Mato Grosso do Sul, Brazil., Miguel DSCG; Escola Bahiana de Medicina e Saúde Pública, Salvador, Bahia, Brazil., Santana-da-Silva LC; Laboratory of Innate Errors of Metabolism, Institute of Biological Sciences, Federal University of Pará, Belém, Pará, Brazil., Galera MF; Department of Pediatrics, Faculty of Medicine, Federal University of Mato Grosso, Cuiabá, Mato Grosso, Brazil., Giugliani R; Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil.; National Institute on Population Medical Genetics, INAGEMP, Porto Alegre, Rio Grande do Sul, Brazil.; Department of Genetics, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil.

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2021 Sep; Vol. 187 (3), pp. 349-356. Date of Electronic Publication: 2021 May 07.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mucopolysaccharidosis II*/genetics, Brazil ; Genotype ; Humans ; Male ; Mutation ; Phenotype

المؤلفون: Kubaski F; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 90040-060, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre 90035-903, Brazil.; Instituto Nacional de Genética Médica Populacional (iNaGeMP), Porto Alegre 90035-003, Brazil., Sousa I; Associação de Pais e Amigos dos Excepcionais (APAE) Salvador, Salvador 41830-141, Brazil., Amorim T; Associação de Pais e Amigos dos Excepcionais (APAE) Salvador, Salvador 41830-141, Brazil., Pereira D; Department of Research and Innovation, Innovatox, São Paulo 06455-020, Brazil., Trometer J; PerkinElmer, Waltham, MA 02451, USA., Souza A; PerkinElmer, São Paulo 02518-080, Brazil., Ranieri E; SA Pathology, Women's and Children's Hospital, Adelaide, SA 5006, Australia., Polo G; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, 35129 Padua, Italy., Burlina A; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, 35129 Padua, Italy., Brusius-Facchin AC; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre 90035-903, Brazil., Netto ABO; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre 90035-903, Brazil.; Instituto Nacional de Genética Médica Populacional (iNaGeMP), Porto Alegre 90035-003, Brazil.; Department of Biological Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 90040-060, Brazil., Tomatsu S; Department of Orthopedics and Biomedical, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA., Giugliani R; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 90040-060, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre 90035-903, Brazil.; Instituto Nacional de Genética Médica Populacional (iNaGeMP), Porto Alegre 90035-003, Brazil.

المصدر: International journal of neonatal screening [Int J Neonatal Screen] 2020 Nov 13; Vol. 6 (4). Date of Electronic Publication: 2020 Nov 13.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE