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1 Ergebnisse
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Pathogenic variants in SQOR encoding sulfide:quinone oxidor..:
Friederich, Marisa W.
;
Elias, Abdallah F.
;
Kuster, Alice
...
Journal of Inherited Metabolic Disease. 43 (2020) 5 - p. 1024-1036 , 2020
Link:
https://doi.org/10.1002/jimd.12232
RT Journal T1
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_jimd.12232&Exemplar=1&LAN=DE A1 Friederich, Marisa W. A1 Elias, Abdallah F. A1 Kuster, Alice A1 Laugwitz, Lucia A1 Larson, Austin A. A1 Landry, Aaron P. A1 Ellwood‐Digel, Logan A1 Mirsky, David M. A1 Dimmock, David A1 Haven, Jaclyn A1 Jiang, Hua A1 MacLean, Kenneth N. A1 Styren, Katie A1 Schoof, Jonathan A1 Goujon, Louise A1 Lefrancois, Thomas A1 Friederich, Maike A1 Coughlin II, Curtis R. A1 Banerjee, Ruma A1 Haack, Tobias B. A1 Van Hove, Johan L. K. PB Wiley YR 2020 SN 0141-8955 SN 1573-2665 JF Journal of Inherited Metabolic Disease VO 43 IS 5 SP 1024 OP 1036 LK http://dx.doi.org/https://doi.org/10.1002/jimd.12232 DO https://doi.org/10.1002/jimd.12232 SF ELIB - SuUB Bremen
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