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TÃTULO: Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency Full Text
AUTORES: Martina Huemer; Daria Diodato; Bernd Schwahn; Manuel Schiff; Anabela Bandeira; Jean Francois Benoist; Alberto Burlina; Roberto Cerone; Maria L Couce; Angeles Garcia Cazorla; Giancarlo la Marca; Elisabetta Pasquini; Laura Vilarinho; James D Weisfeld Adams; Viktor Kozich; Henk Blom; Matthias R Baumgartner; Carlo Dionisi Vici;
PUBLICAÇÃO: 2017, FONTE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 40, NÚMERO: 1

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TÃTULO: Clinical presentation and outcome in a series of 88 patients with the cblC defect Full Text
AUTORES: Sabine Fischer; Martina Huemer; Matthias Baumgartner; Federica Deodato; Diana Ballhausen; Avihu Boneh; Alberto B Burlina; Roberto Cerone; Paula Garcia; Guelden Goekcay; Stephanie Gruenewald; Johannes Haeberle; Jaak Jaeken; David Ketteridge; Martin Lindner; Hanna Mandel; Diego Martinelli; Esmeralda G Martins ; Karl O Schwab; Sarah C Gruenert; Bernd C Schwahn; Laszlo Sztriha; Maren Tomaske; Friedrich Trefz; Laura Vilarinho; David S Rosenblatt; Brian Fowler; Carlo Dionisi Vici; ...Mais
PUBLICAÇÃO: 2014, FONTE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 37, NÚMERO: 5

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