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The clinical utility of total concentration of urinary globotriaosylsphingosine plus its analogues in the diagnosis of Fabry disease.
Alharbi, Fahad J; Baig, Shanat; Rambhatla, Srinivasa B; Vijapurapu, Ravi; Auray-Blais, Christiane; Boutin, Michel; Steeds, Richard; Wheeldon, Nigel; Dawson, Charlotte; Geberhiwot, Tarekegn.
Afiliação
  • Alharbi FJ; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, UK; NBS & Metabolic Laboratory, Prince Sultan Military Medical City, PO Box 7897, Riyadh 11159, Saudi Arabia. Electronic address: fjharbi@psmmc.med.sa.
  • Baig S; Institute of Cardiovascular Science, University of Birmingham, Birmingham B15 2TT, UK; University Hospitals of Birmingham NHS Foundation Trust, Birmingham B15 2TH, UK. Electronic address: shanat.baig@nhs.net.
  • Rambhatla SB; Brighton and Sussex University Hospitals Trust, Brighton BN2 5BE, UK. Electronic address: Srinivasa.Rambhatla@nhs.net.
  • Vijapurapu R; Institute of Cardiovascular Science, University of Birmingham, Birmingham B15 2TT, UK; University Hospitals of Birmingham NHS Foundation Trust, Birmingham B15 2TH, UK. Electronic address: ravi.vijapurapu@nhs.net.
  • Auray-Blais C; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Quebec J1H 5N4, Canada. Electronic address: Christiane.Auray@USherbrooke.Ca.
  • Boutin M; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Quebec J1H 5N4, Canada. Electronic address: Michel.Boutin2@USherbrooke.ca.
  • Steeds R; Institute of Cardiovascular Science, University of Birmingham, Birmingham B15 2TT, UK. Electronic address: Rick.Steeds@uhb.nhs.uk.
  • Wheeldon N; Cardiothoracic Centre, Northern General Hospital, Sheffield Teaching Hospitals NHS Trust, Sheffield, UK. Electronic address: Nigel.Wheeldon@sth.nhs.uk.
  • Dawson C; University Hospitals of Birmingham NHS Foundation Trust, Birmingham B15 2TH, UK. Electronic address: Charlotte.Dawson@uhb.nhs.uk.
  • Geberhiwot T; University Hospitals of Birmingham NHS Foundation Trust, Birmingham B15 2TH, UK; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham B15 2TT, UK. Electronic address: tarekegn.geberhiwot@uhb.nhs.uk.
Clin Chim Acta ; 500: 120-127, 2020 Jan.
Article em En | MEDLINE | ID: mdl-31654629
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Esfingolipídeos / Doença de Fabry Tipo de estudo: Diagnostic_studies / Observational_studies / Screening_studies Limite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Chim Acta Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Esfingolipídeos / Doença de Fabry Tipo de estudo: Diagnostic_studies / Observational_studies / Screening_studies Limite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Chim Acta Ano de publicação: 2020 Tipo de documento: Article