Detalhe da pesquisa
1.
ECHS1 deficiency and its biochemical and clinical phenotype.
Am J Med Genet A
; 188(10): 2908-2919, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35856138
2.
Beyond the Diagnosis: Evaluation of Quality-of-Life Measures and Family Functioning in SLC6A1-Related Neurodevelopmental Disorder.
Pediatr Neurol
; 155: 160-166, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38663152
3.
1H and 31P magnetic resonance spectroscopy reveals potential pathogenic and biomarker metabolite alterations in Lafora disease.
Brain Commun
; 6(2): fcae104, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585668