Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A...
Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study
About this item
Full title
Author / Creator
De Felipe, Beatriz , Delgado-Pecellin, Carmen , Lopez-Lobato, Mercedes , Olbrich, Peter , Blanco-Lobo, Pilar , Marquez-Fernandez, Josefina , Salamanca, Carmen , Mendoza, Beatriz , Castro-Serrano, Rocio , Duque, Cristina , Moreno-Prieto, Mariana , Madruga-Garrido, Marcos , Lucena, Jose M. , Fernandez, Raquel M. , Ruiz-Camacho, Maria , Varona, Alberto and Neth, Olaf
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
Spinal muscular atrophy (SMA) and severe T- and/or B-cell lymphopenias (STBCL) in the form of severe combined immunodeficiencies (SCID) or X-linked agammaglobulinemia (XLA) are rare but potentially fatal pathologies. In January 2021, we initiated the first pilot study in Spain to evaluate the efficacy of a very early detection technique for SMA and...
Alternative Titles
Full title
Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study
Authors, Artists and Contributors
Author / Creator
Delgado-Pecellin, Carmen
Lopez-Lobato, Mercedes
Olbrich, Peter
Blanco-Lobo, Pilar
Marquez-Fernandez, Josefina
Salamanca, Carmen
Mendoza, Beatriz
Castro-Serrano, Rocio
Duque, Cristina
Moreno-Prieto, Mariana
Madruga-Garrido, Marcos
Lucena, Jose M.
Fernandez, Raquel M.
Ruiz-Camacho, Maria
Varona, Alberto
Neth, Olaf
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_70e439395a81442599a663399c79466c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_70e439395a81442599a663399c79466c
Other Identifiers
ISSN
2409-515X
E-ISSN
2409-515X
DOI
10.3390/ijns11010011
