Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome

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Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome

Author: Sharkia, Rajech; Wierenga, Klaas J.; Kessel, Amit; Azem, Abdussalam; Bertini, Enrico; Carrozzo, Rosalba; Torraco, Alessandra; Goffrini, Paola; Berti, Camilla Ceccatelli; McCormick, M. Eileen; Plecko, Barbara; Klein, Andrea; Abela, Lucia; Hengel, Holger; Schoels, Ludger; Shalev, Stavit; Khayat, Morad; Mahajnah, Muhammad; Spiegel, Ronen
Tübinger Autor(en):
Hengel, Holger
Schöls, Ludger
Published in: Journal of Inherited Metabolic Disease (2019), Bd. 42, H. 2, S. 264-275
Verlagsangabe: Wiley
Language: English
Full text: http://dx.doi.org/10.1002/jimd.12022
ISSN: 1573-2665
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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