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Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.
Pino, Gisele; Conboy, Erin; Tortorelli, Silvia; Minnich, Sara; Nickander, Kim; Lacey, Jean; Peck, Dawn; Studinski, April; White, Amy; Gavrilov, Dimitar; Rinaldo, Piero; Matern, Dietrich; Oglesbee, Devin; Giugliani, Roberto; Burin, Maira; Raymond, Kimiyo.
Afiliação
  • Pino G; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. Electronic address: pino.gisele@mayo.edu.
  • Conboy E; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Tortorelli S; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Minnich S; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Nickander K; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Lacey J; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Peck D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Studinski A; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • White A; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Gavrilov D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Rinaldo P; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Matern D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Oglesbee D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Giugliani R; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • Burin M; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.
  • Raymond K; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Mol Genet Metab ; 129(2): 106-110, 2020 02.
Article em En | MEDLINE | ID: mdl-31753749

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sulfoglicoesfingolipídeos / Doenças por Armazenamento dos Lisossomos / Glicosaminoglicanos / Mucolipidoses Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sulfoglicoesfingolipídeos / Doenças por Armazenamento dos Lisossomos / Glicosaminoglicanos / Mucolipidoses Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article