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1.
Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency.
Genet Med
; 26(6): 101123, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38501492
2.
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy.
J Inherit Metab Dis
; 2024 Apr 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-38623632
3.
Resting and total energy expenditure of patients with long-chain fatty acid oxidation disorders (LC-FAODs).
Mol Genet Metab
; 138(3): 107519, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36696737
4.
A proposal for an updated staging system for LCHADD retinopathy.
Ophthalmic Genet
; 45(2): 140-146, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38288966
5.
Optical coherence tomography angiography of choroidal neovascularization in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Am J Ophthalmol Case Rep
; 32: 101958, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-38161518
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