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발행년	- (예 : 2010-2015)

전체선택

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

Academic Journal

Maas, RR; Iwanicka-Pronicka, K; Ucar, SK; Alhaddad, B; AlSayed, M; Al-Owain, MA; Al-Zaidan, HI; Balasubramaniam, S; Baric, I; Bubshait, DK; Burlina, A; Christodoulou, J; Chung, WK; Colombo, R; Darin, N; Freisinger, P; Silva, MTG; Grunewald, S; Haack, TB; van Hasselt, PM; Hikmat, O; Horster, F; Isohanni, P; Ramzan, K; Kovacs-Nagy, R; Krumina, Z; Martin-Hernandez, E; Mayr, JA; McClean, P; De Meirleir, L; Naess, K; Ngu, LH; Pajdowska, M; Rahman, S; Riordan, G; Riley, L; Roeben, B; Rutsch, F; Santer, R; Schiff, M; Seders, M; Sequeira, S; Sperl, W; Staufner, C; Synofzik, M; Taylor, RW; Trubicka, J; Tsiakas, K; Unal, O; Wassmer, E; Wedatilake, Y; Wolff, T; Prokisch, H; Morava, E; Pronicka, E; Wevers, RA; de Brouwer, AP; Wortmann, SB

Annals of neurology. 82(6):1004-1015

Full Text (Wiley Journals) Full Text (Wiley-DB) Open Access (SwePub) Web of Science JCR 저널정보 Scopus Find it@PNU

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

Electronic Resource

Huemer, M; Bürer, C; Ješina, P; Kožich, V; Landolt, M A; https://orcid.org/0000-0003-0760-5558; Suormala, T; Fowler, B; Augoustides-Savvopoulou, P; Blair, E; Brennerova, K; Broomfield, A; De Meirleir, L; Gökcay, G; Hennermann, J; Jardine, P; Koch, J; Lorenzl, S; Lotz-Havla, A S; Noss, J; Parini, R; Peters, H; Plecko, B; Ramos, F J; Schlune, A; Tsiakas, K; Zerjav Tansek, M; Baumgartner, M R; https://orcid.org/0000-0002-9270-0826

Huemer, M; Bürer, C; Ješina, P; Kožich, V; Landolt, M A; Suormala, T; Fowler, B; Augoustides-Savvopoulou, P; Blair, E; Brennerova, K; Broomfield, A; De Meirleir, L; Gökcay, G; Hennermann, J; Jardine, P; Koch, J; Lorenzl, S; Lotz-Havla, A S; Noss, J; Parini, R; Peters, H; Plecko, B; Ramos, F J; Schlune, A; Tsiakas, K; Zerjav Tansek, M; Baumgartner, M R (2015). Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data. Journal of Inherited Metabolic Disease, 38(5):957-967.

Open Access (OAIster)