Detalhe da pesquisa
1.
Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients.
BMC Biol
; 21(1): 184, 2023 09 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37667308
2.
Towards values-based healthcare for inherited metabolic disorders: An overview of current practices for persons with liver glycogen storage disease and fatty acid oxidation disorders.
J Inherit Metab Dis
; 45(6): 1018-1027, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36088581
3.
Plasma carnitine concentrations in Medium-chain acyl-CoA dehydrogenase deficiency: lessons from an observational cohort study.
J Inherit Metab Dis
; 45(6): 1118-1129, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35778950
4.
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
Genet Med
; 22(5): 908-916, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31904027
5.
A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
J Inherit Metab Dis
; 42(5): 890-897, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31012112
6.
Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency: a perinatal protocol for use before population neonatal screening test results become available.
Genet Med
; 18(12): 1322-1323, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27657689