Pathogenic Variants in GCSH Encoding the Moonlighting H-protein Cause Combined Nonketotic Hyperglycinemia and Lipoate Deficiency
Laura Arribas-Carreira,Cristina Dallabona,Michael A. Swanson,Joseph Farris,Elsebet Ostergaard,Konstantinos Tsiakas,Maja Hempel,Cecile Aquaviva-Bourdain,Stefanos Koutsoukos,Nicholas Stence,Martina Magistrati,Elaine B. Spector,Kathryn Kronquist,Mette Christensen,Helena G. Karstensen,Rene G. Feichtinger,Melanie T. Achleitner,J. Lawrence Merritt,Belen Perez,Magdalena Ugarte,Stephanie Grunewald,Anthony R. Riela,Natalia Julve,Jean-Baptiste Arnoux,Kasturi Haldar,Claudia Donnini,Rene Santer,Allan M. Lund,Johannes A. Mayr,Pilar Rodriguez-Pombo,Johan L. K. Van Hove Human molecular genetics online/Human molecular genetics（2022）
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