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The clinical spectrum and molecular heterogeneity of Succinyl- CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency
(2021)
Grünert, S.
;
Foster, W.
;
Schumann, A.
;
Allan, L.
;
Pontes, C.
;
Roloff, S.
;
Weinhold, N.
;
Yue, W.
;
AlAsmari, A.
;
Obaid, O.
;
Faqeih, E.
;
Stübbe, L.
;
Yamamoto, R.
;
Gemperle-Britschgi, C.
;
Walter, M.
;
Spiekerkoetter, U.
;
Mackinnon, S.
;
Sass, J.
Disorders of ketone body transport and utilization as a cause of recurrent metabolic acidosis: succinyl-coenzyme A: 3-oxoacyl coenzyme A transferase (SCOT) deficiency (mutations in the OXCT1 gene) and monocarboxylate transporter 1 (MCT1) deficiency
(2019)
Roloff, S.
;
Stübbe, L.
;
Gemperle-Britschgi, C.
;
Yamamoto, R.
;
Hennermann, J.
;
Weinhold, N.
;
Sass, J. O.
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