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1.
Differences in the urinary metabolome and proteome between wet and dry nights in children with monosymptomatic nocturnal enuresis and nocturnal polyuria.
Pediatr Nephrol
; 38(10): 3347-3358, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37140712
2.
Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?
J Inherit Metab Dis
; 44(5): 1215-1225, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-33973257
3.
High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene.
J Inherit Metab Dis
; 33(3): 247-60, 2010 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-20480395
4.
Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria.
J Inherit Metab Dis
; 33(3): 211-22, 2010 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-20443061
5.
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.
Hum Genet
; 124(1): 43-56, 2008 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-18523805
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