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Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study.
Polo, Giulia; Burlina, Alessandro P; Ranieri, Enzo; Colucci, Francesca; Rubert, Laura; Pascarella, Antonia; Duro, Giovanni; Tummolo, Albina; Padoan, Andrea; Plebani, Mario; Burlina, Alberto B.
Affiliation
  • 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.
  • Burlina AP; Neurological Unit, St. Bassiano Hospital, Bassano del Grappa, Italy.
  • Ranieri E; Department of Biochemical Genetics, Directorate of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
  • Colucci F; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children's Health, University Hospital of Padova, Padova, Italy.
  • Rubert L; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children's Health, University Hospital of Padova, Padova, Italy.
  • Pascarella 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.
  • Duro G; Institute of Biomedicine and Molecular Immunology (IBIM), National Research Council, Palermo, Italy.
  • Tummolo A; Department of Metabolic Diseases, Clinical Genetics and Diabetology, Giovanni XXIII Children's Hospital, Bari, Italy.
  • Padoan A; Department Laboratory Medicine, University Hospital of Padova, Padova, Italy.
  • Plebani M; Department Laboratory Medicine, University Hospital of Padova, Padova, Italy.
  • Burlina AB; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children's Health, University Hospital of Padova, Padova, Italy.
Clin Chem Lab Med ; 57(12): 1863-1874, 2019 Nov 26.
Article in En | MEDLINE | ID: mdl-31091195
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sphingolipids / Sphingolipidoses / Dried Blood Spot Testing Type of study: Diagnostic_studies / Guideline / Prognostic_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Clin Chem Lab Med Journal subject: QUIMICA CLINICA / TECNICAS E PROCEDIMENTOS DE LABORATORIO Year: 2019 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sphingolipids / Sphingolipidoses / Dried Blood Spot Testing Type of study: Diagnostic_studies / Guideline / Prognostic_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Clin Chem Lab Med Journal subject: QUIMICA CLINICA / TECNICAS E PROCEDIMENTOS DE LABORATORIO Year: 2019 Document type: Article Affiliation country: Country of publication: