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A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.
Tesorero, Rafael; Janda, Joachim; Hörster, Friederike; Feyh, Patrik; Mütze, Ulrike; Hauke, Jana; Schwarz, Kathrin; Kunz, Joachim B; Hoffmann, Georg F; Okun, Jürgen G.
Affiliation
  • Tesorero R; Department of General Pediatrics, Division for Neuropediatrics and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany.
  • Janda J; Department of General Pediatrics, Division for Neuropediatrics and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany.
  • Hörster F; Department of General Pediatrics, Division for Neuropediatrics and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany.
  • Feyh P; Department of General Pediatrics, Division for Neuropediatrics and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany.
  • Mütze U; Department of General Pediatrics, Division for Neuropediatrics and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany.
  • Hauke J; Department of General Pediatrics, Division for Neuropediatrics and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany.
  • Schwarz K; Department of General Pediatrics, Division for Neuropediatrics and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany.
  • Kunz JB; Department of Pediatric Oncology, Hematology, Oncology and Immunology, University of Heidelberg, Heidelberg, Germany.
  • Hoffmann GF; Department of General Pediatrics, Division for Neuropediatrics and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany.
  • Okun JG; Department of General Pediatrics, Division for Neuropediatrics and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany.
PLoS One ; 18(3): e0283024, 2023.
Article in En | MEDLINE | ID: mdl-36897914
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Atrophy, Spinal / Severe Combined Immunodeficiency / Anemia, Sickle Cell Type of study: Diagnostic_studies / Screening_studies Limits: Humans / Newborn Language: En Journal: PLoS One Journal subject: CIENCIA / MEDICINA Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Atrophy, Spinal / Severe Combined Immunodeficiency / Anemia, Sickle Cell Type of study: Diagnostic_studies / Screening_studies Limits: Humans / Newborn Language: En Journal: PLoS One Journal subject: CIENCIA / MEDICINA Year: 2023 Document type: Article Affiliation country: Country of publication: