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A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes.
Burlina, Alberto; Jones, Simon A; Chakrapani, Anupam; Church, Heather J; Heales, Simon; Wu, Teresa H Y; Morton, Georgina; Roberts, Patricia; Sluys, Erica F; Cheillan, David.
Afiliação
  • Burlina A; Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, University Hospital Padova, 35128 Padova, Italy.
  • Jones SA; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, St Mary's Hospital, Oxford Road, Manchester M13 9WL, UK.
  • Chakrapani A; Department of Metabolic Medicine, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK.
  • Church HJ; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, St Mary's Hospital, Oxford Road, Manchester M13 9WL, UK.
  • Heales S; Neurometabolic Unit, University College London Hospitals NHS Foundation Trust and Enzymes Laboratory, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK.
  • Wu THY; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, St Mary's Hospital, Oxford Road, Manchester M13 9WL, UK.
  • Morton G; ArchAngel MLD Trust, Registered Charity No. 1157825, 59 Warwick Square, London SW1V 2AL, UK.
  • Roberts P; ArchAngel MLD Trust, Registered Charity No. 1157825, 59 Warwick Square, London SW1V 2AL, UK.
  • Sluys EF; Helvet Health, Ruelle de la Muraz 4, 1260 Nyon, Switzerland.
  • Cheillan D; Service Biochimie et Biologie Moléculaire, Groupement Hospitalier Est, Hospices Civils de Lyon, 69002 Lyon, France.
Int J Neonatal Screen ; 8(2)2022 Mar 25.
Article em En | MEDLINE | ID: mdl-35466196
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article