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

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

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

Autor(en):

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

Erschienen in:

Journal of Inherited Metabolic Disease (2019), Bd. 42, H. 2, S. 264-275

Verlagsangabe:

Wiley

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1002/jimd.12022

ISSN:

1573-2665