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1.
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
Am J Med Genet A
; 176(5): 1115-1127, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29575569
2.
Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis.
JIMD Rep
; 55(1): 26-31, 2020 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-32905056
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