Detalhe da pesquisa
1.
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.
J Inherit Metab Dis
; 46(2): 220-231, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36266255
2.
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Int J Mol Sci
; 23(19)2022 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36233161
3.
Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study.
Drugs R D
; 24(1): 69-80, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38198106
4.
Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency.
Pediatrics
; 129(2): e535-9, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22271696