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Huemer, Martina; Diodato, Daria; Martinelli, Diego; Olivieri, Giorgia; Blom, Henk; Gleich, Florian; Kölker, Stefan; Kožich, Viktor; Morris, Andrew A; Seifert, Burkhardt; Froese, D Sean; Baumgartner, Matthias R; EHOD consortium; et al (2018). Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry. Journal of Inherited Metabolic Disease:Epub ahead of print.

Hamilton, Eline M C; Bertini, Enrico; Kalaydjieva, Luba; Morar, Bharti; Dojčáková, Dana; Liu, Judy; Vanderver, Adeline; Curiel, Julian; Persoon, Claudia M; Diodato, Daria; Pinelli, Lorenzo; van der Meij, Nathalie L; Plecko, Barbara; Blaser, Susan; Wolf, Nicole I; Waisfisz, Quinten; Abbink, Truus E M; van der Knaap, Marjo S; Recessive H-ABC Research Group (2017). UFM1 founder mutation in the Roma population causes recessive variant of H-ABC. Neurology, 89(17):1821-1828.

Huemer, Martina; Diodato, Daria; Schwahn, Bernd; Schiff, Manuel; Bandeira, Anabela; Benoist, Jean-Francois; Burlina, Alberto; Cerone, Roberto; Couce, Maria L; Garcia-Cazorla, Angeles; la Marca, Giancarlo; Pasquini, Elisabetta; Vilarinho, Laura; Weisfeld-Adams, James D; Kožich, Viktor; Blom, Henk; Baumgartner, Matthias R; Dionisi-Vici, Carlo (2017). Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. Journal of Inherited Metabolic Disease, 40(1):21-48.

This list was generated on Sat Apr 20 22:56:36 2019 CEST.