Detalhe da pesquisa
1.
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Hum Mol Genet
; 32(15): 2441-2454, 2023 07 20.
Artigo
Inglês
| MEDLINE | ID: mdl-37133451
2.
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.
Orphanet J Rare Dis
; 19(1): 46, 2024 Feb 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38326898
3.
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
Eur J Paediatr Neurol
; 49: 141-154, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38554683