Pathogenic variants inSQORencoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

Friederich, Marisa W.; Elias, Abdallah F.; Kuster, Alice; Laugwitz, Lucia; Larson, Austin A.; Landry, Aaron P.; Ellwood-Digel, Logan; Mirsky, David M.; Dimmock, David; Haven, Jaclyn; Jiang, Hua; MacLean, Kenneth N.; Styren, Katie; Schoof, Jonathan; Goujon, Louise; Lefrancois, Thomas; Friederich, Maike; Coughlin, Curtis R., II; Banerjee, Ruma; Haack, Tobias B.; Van Hove, Johan L. K.

Pathogenic variants inSQORencoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

Author:

Friederich, Marisa W.; Elias, Abdallah F.; Kuster, Alice; Laugwitz, Lucia; Larson, Austin A.; Landry, Aaron P.; Ellwood-Digel, Logan; Mirsky, David M.; Dimmock, David; Haven, Jaclyn; Jiang, Hua; MacLean, Kenneth N.; Styren, Katie; Schoof, Jonathan; Goujon, Louise; Lefrancois, Thomas; Friederich, Maike; Coughlin, Curtis R., II; Banerjee, Ruma; Haack, Tobias B.; Van Hove, Johan L. K.

Tübinger Autor(en):

Laugwitz, Lucia
Haack, Tobias

Published in:

Journal of Inherited Metabolic Disease (2020), Bd. 43, H. 5, S. 1024-1036

Verlagsangabe:

Wiley

Language:

English

Full text:

http://dx.doi.org/10.1002/jimd.12232

ISSN:

1573-2665