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Gaucher Disease.
Hughes DA, Pastores GM. Hughes DA, et al. Among authors: pastores gm. 2000 Jul 27 [updated 2023 Dec 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Jul 27 [updated 2023 Dec 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301446 Free Books & Documents. Review.
Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.
Treacy EP, Vencken S, Bosch AM, Gautschi M, Rubio-Gozalbo E, Dawson C, Nerney D, Colhoun HO, Shakerdi L, Pastores GM, O'Flaherty R, Saldova R. Treacy EP, et al. Among authors: pastores gm. JIMD Rep. 2021 Jul 22;61(1):76-88. doi: 10.1002/jmd2.12237. eCollection 2021 Sep. JIMD Rep. 2021. PMID: 34485021 Free PMC article.
Lysosomal Acid Lipase Deficiency: Therapeutic Options.
Pastores GM, Hughes DA. Pastores GM, et al. Drug Des Devel Ther. 2020 Feb 11;14:591-601. doi: 10.2147/DDDT.S149264. eCollection 2020. Drug Des Devel Ther. 2020. PMID: 32103901 Free PMC article. Review.
A bolt from the blue; A case report of an unusual asthma exacerbation.
Moloney C, Long A, Pastores GM, Plant BJ, Murphy DM. Moloney C, et al. Among authors: pastores gm. Respir Med Case Rep. 2019 Dec 12;29:100983. doi: 10.1016/j.rmcr.2019.100983. eCollection 2020. Respir Med Case Rep. 2019. PMID: 31908916 Free PMC article.
Metallosis mimicking a metabolic disorder: a case report.
Stepien KM, Abidin Z, Lee G, Cullen R, Logan P, Pastores GM. Stepien KM, et al. Among authors: pastores gm. Mol Genet Metab Rep. 2018 Sep 25;17:38-41. doi: 10.1016/j.ymgmr.2018.09.005. eCollection 2018 Dec. Mol Genet Metab Rep. 2018. PMID: 30271721 Free PMC article.
Promoting the clearance of neurotoxic proteins in neurodegenerative disorders of ageing.
Boland B, Yu WH, Corti O, Mollereau B, Henriques A, Bezard E, Pastores GM, Rubinsztein DC, Nixon RA, Duchen MR, Mallucci GR, Kroemer G, Levine B, Eskelinen EL, Mochel F, Spedding M, Louis C, Martin OR, Millan MJ. Boland B, et al. Among authors: pastores gm. Nat Rev Drug Discov. 2018 Sep;17(9):660-688. doi: 10.1038/nrd.2018.109. Epub 2018 Aug 17. Nat Rev Drug Discov. 2018. PMID: 30116051 Free PMC article. Review.
179 results