Detalhe da pesquisa
1.
Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening.
Dev Med Child Neurol
; 65(1): 67-77, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35673937
2.
Correspondence on: "Discrepancy in Spinal Muscular Atrophy Incidence findings in newborn screening programs: the influence of carrier screening?" by Kay et al.
Genet Med
; 22(11): 1913-1914, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32601389
3.
Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium.
Neuromuscul Disord
; 34: 61-67, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38150893
4.
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands.
Neuromuscul Disord
; 34: 114-122, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38183850
5.
Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening-A Systematic Review.
Genes (Basel)
; 14(7)2023 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37510282
6.
Newborn screening of neuromuscular diseases.
Neuromuscul Disord
; 31(10): 1070-1080, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34620514
7.
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go.
Neuromuscul Disord
; 31(6): 574-582, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33985857
8.
Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments.
Orphanet J Rare Dis
; 16(1): 47, 2021 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33485382
9.
Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy.
Sci Rep
; 11(1): 3011, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33542429
10.
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.
Sci Rep
; 11(1): 19922, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34620959
11.
244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands.
Neuromuscul Disord
; 30(1): 93-103, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31882184
12.
Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives.
Ther Clin Risk Manag
; 15: 1153-1161, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31632042
13.
Universal Newborn Screening for Spinal Muscular Atrophy.
JAMA Pediatr
; 178(6): 520-521, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38587838
14.
Newborn screening for SMA in Southern Belgium.
Neuromuscul Disord
; 29(5): 343-349, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31030938
15.
Reader response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA.
Neurology
; 95(3): 144-145, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32690780