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Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Ann Clin Transl Neurol. 2024 Apr;11(4):883-898. doi: 10.1002/acn3.52002. Epub 2024 Jan 23.
Ann Clin Transl Neurol. 2024.
PMID: 38263760
Free PMC article.
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Grünert SC, Derks TGJ, Adrian K, Al-Thihli K, Ballhausen D, Bidiuk J, Bordugo A, Boyer M, Bratkovic D, Brunner-Krainz M, Burlina A, Chakrapani A, Corpeleijn W, Cozens A, Dawson C, Dhamko H, Milosevic MD, Eiroa H, Finezilber Y, Moura de Souza CF, Garcia-Jiménez MC, Gasperini S, Haas D, Häberle J, Halligan R, Fung LH, Hörbe-Blindt A, Horka LM, Huemer M, Uçar SK, Kecman B, Kilavuz S, Kriván G, Lindner M, Lüsebrink N, Makrilakis K, Mei-Kwun Kwok A, Maier EM, Maiorana A, McCandless SE, Mitchell JJ, Mizumoto H, Mundy H, Ochoa C, Pierce K, Fraile PQ, Regier D, Rossi A, Santer R, Schuman HC, Sobieraj P, Spenger J, Spiegel R, Stepien KM, Tal G, Tanšek MZ, Torkar AD, Tchan M, Thyagu S, Schrier Vergano SA, Vucko E, Weinhold N, Zsidegh P, Wortmann SB.
Grünert SC, et al. Among authors: horbe blindt a.
Genet Med. 2022 Aug;24(8):1781-1788. doi: 10.1016/j.gim.2022.04.001. Epub 2022 May 3.
Genet Med. 2022.
PMID: 35503103
Free article.
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Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study.
Patterson MC, Mengel E, Vanier MT, Schwierin B, Muller A, Cornelisse P, Pineda M; NPC Registry investigators.
Patterson MC, et al.
Orphanet J Rare Dis. 2015 May 28;10:65. doi: 10.1186/s13023-015-0284-z.
Orphanet J Rare Dis. 2015.
PMID: 26017010
Free PMC article.
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