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5. Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review. Muntean C; Tripon F; Bogliș A; Bănescu C Int J Environ Res Public Health; 2022 Feb; 19(4):. PubMed ID: 35206276 [No Abstract] [Full Text] [Related]
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10. Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches. Illsinger S; Korenke GC; Boesch S; Nocker M; Karall D; Nuoffer JM; Laugwitz L; Mayr JA; Scholl-Bürgi S; Freisinger P; Kowald T; Kölker S; Prokisch H; Haack TB Eur J Med Genet; 2020 Nov; 63(11):104046. PubMed ID: 32858208 [TBL] [Abstract][Full Text] [Related]
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