Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay.

Adams, Stuart P; Gravett, Emma; Kent, Natalie; Kricke, Susanne; Ifederu, Adeboye; Scoto, Mariacristina; Samsuddin, Salma; Muntoni, Francesco

Adams, Stuart P; Gravett, Emma; Kent, Natalie; Kricke, Susanne; Ifederu, Adeboye; Scoto, Mariacristina; Samsuddin, Salma; Muntoni, Francesco.

Affiliation

Adams SP; SIHMDS-Haematology, Camelia Botnar Labs, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.
Gravett E; Infection, Immunity and Inflammation Section, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
Kent N; SIHMDS-Haematology, Camelia Botnar Labs, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.
Kricke S; SIHMDS-Haematology, Camelia Botnar Labs, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.
Ifederu A; SIHMDS-Haematology, Camelia Botnar Labs, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.
Scoto M; Newborn Screening Unit, Camelia Botnar Labs, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.
Samsuddin S; Developmental Neurosciences Research & Teaching Department, Molecular Neurosciences, Dubowitz Neuromuscular Unit, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
Muntoni F; The Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London WC1N 1EH, UK.

Int J Neonatal Screen ; 7(4)2021 Oct 26.

Article in En | MEDLINE | ID: mdl-34842601

Key words

NBS; SMA; SMN1; dried blood spot; newborn screening; spinal muscular atrophy

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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Screening_studies Language: En Journal: Int J Neonatal Screen Year: 2021 Document type: Article Affiliation country: Reino Unido Country of publication: Suiza

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