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Gaucher disease and SARS-CoV-2 infection: Emerging management challenges.
Mistry P, Balwani M, Barbouth D, Burrow TA, Ginns EI, Goker-Alpan O, Grabowski GA, Kartha RV, Kishnani PS, Lau H, Lee CU, Lopez G, Maegawa G, Packman S, Prada C, Rosenbloom B, Lal TR, Schiffmann R, Weinreb N, Sidransky E. Mistry P, et al. Among authors: schiffmann r. Mol Genet Metab. 2020 Jul;130(3):164-169. doi: 10.1016/j.ymgme.2020.05.002. Epub 2020 May 11. Mol Genet Metab. 2020. PMID: 32471800 Free PMC article. No abstract available.
GDF15 is a dynamic biomarker of the integrated stress response in the central nervous system.
Asundi J, Zhang C, Donnelly-Roberts D, Solorio JZ, Challagundla M, Connelly C, Boch C, Chen J, Richter M, Maneshi MM, Swensen AM, Lebon L, Schiffmann R, Sanyal S, Sidrauski C, Kolumam G, Baruch A. Asundi J, et al. Among authors: schiffmann r. CNS Neurosci Ther. 2024 Feb;30(2):e14600. doi: 10.1111/cns.14600. CNS Neurosci Ther. 2024. PMID: 38357857 Free PMC article.
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.
Potic A, Perrier S, Radovic T, Gavrilovic S, Ostojic J, Tran LT, Thiffault I, Pastinen T, Schiffmann R, Bernard G. Potic A, et al. Among authors: schiffmann r. Orphanet J Rare Dis. 2023 Jul 13;18(1):187. doi: 10.1186/s13023-023-02802-6. Orphanet J Rare Dis. 2023. PMID: 37443037 Free PMC article. Review.
Optimizing human α-galactosidase for treatment of Fabry disease.
Hallows WC, Skvorak K, Agard N, Kruse N, Zhang X, Zhu Y, Botham RC, Chng C, Shukla C, Lao J, Miller M, Sero A, Viduya J, Ismaili MHA, McCluskie K, Schiffmann R, Silverman AP, Shen JS, Huisman GW. Hallows WC, et al. Among authors: schiffmann r. Sci Rep. 2023 Mar 23;13(1):4748. doi: 10.1038/s41598-023-31777-4. Sci Rep. 2023. PMID: 36959353 Free PMC article.
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS. Koch RL, et al. Among authors: schiffmann r. Mol Genet Metab. 2023 Mar;138(3):107525. doi: 10.1016/j.ymgme.2023.107525. Epub 2023 Jan 25. Mol Genet Metab. 2023. PMID: 36796138 Review.
323 results