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Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Bertsche A, Vill K, Baumann M, Baumgartner M, Cordts I, Eisenkölbl A, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Horber V, Husain RA, Illsinger S, Jahnel J, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schwerin-Nagel A, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Trollmann R, Weiler M, Weiß C, Wiegand G, Wilichowski E, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Pechmann A, et al. Orphanet J Rare Dis. 2022 Oct 23;17(1):384. doi: 10.1186/s13023-022-02547-8. Orphanet J Rare Dis. 2022. PMID: 36274155 Free PMC article.
[Hepatomegaly due to glycogen storage disease and type 1 diabetes mellitus].
Flotats Bastardas M, Miserachs Barba M, Ricart Cumeras A, Clemente León M, Gussinyer Canadell M, Yeste Fernández D, Albisu Aparicio MA, Carrascosa Lezcano A. Flotats Bastardas M, et al. An Pediatr (Barc). 2007 Aug;67(2):157-60. doi: 10.1016/s1695-4033(07)70577-5. An Pediatr (Barc). 2007. PMID: 17692262 Free article. Spanish.
Correction to: Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study.
Ebrahimi-Fakhari D, Mann LL, Poryo M, Graf N, von Kries R, Heinrich B, Ebrahimi-Fakhari D, Flotats-Bastardas M, Gortner L, Zemlin M, Meyer S. Ebrahimi-Fakhari D, et al. Orphanet J Rare Dis. 2019 May 13;14(1):106. doi: 10.1186/s13023-019-1090-9. Orphanet J Rare Dis. 2019. PMID: 31084624 Free PMC article.
44 results