Title: | The difficult path to diagnosis of the patient with spinal muscular atrophy |
Original title: | El difícil camino al diagnóstico del paciente con atrofia muscular espinal. |
Journal : | Archivos argentinos de pediatria |
Authors: | Bolano Diaz CF ; Morosini M ; Chloca F ; Mesa L ; Jauregui A ; Pirra L ; Vazquez G ; Flores D ; Dubrovsky A |
Material Type: | Article |
Publisher: | Argentina, 27/10/2022 |
Languages: | English |
Keywords : | crossover studies ; diagnosis ; spinal muscular atrophy |
Keywords: | congenital genetic diseases ; late diagnosis ; muscular hypotonia ; neuromuscular diseases ; spinal muscular atrophy |
Pubmed / DOI : | Pubmed : 36287576 / DOI : 10.5546/aap.2021-02542.eng |
N° Profil MNM : | 2022102 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/36287576 |