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Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease.
Drelichman GI, Fernández Escobar N, Soberon BC, Basack NF, Frabasil J, Schenone AB, Aguilar G, Larroudé MS, Knight JR, Zhao D, Ruan J, Mistry PK; Argentine Group for Diagnosis and Treatment of Gaucher Disease. Drelichman GI, et al. Among authors: mistry pk. Mol Genet Metab Rep. 2021 Nov 11;29:100820. doi: 10.1016/j.ymgmr.2021.100820. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34820281 Free PMC article.
Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.
El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, Kolodny EH, Batista JL, Cox GF, Mistry PK. El-Beshlawy A, et al. Among authors: mistry pk. Mol Genet Metab. 2017 Jan-Feb;120(1-2):47-56. doi: 10.1016/j.ymgme.2016.12.001. Epub 2016 Dec 6. Mol Genet Metab. 2017. PMID: 28040394 Free article. Clinical Trial.
Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.
Mistry PK, Balwani M, Baris HN, Turkia HB, Burrow TA, Charrow J, Cox GF, Danda S, Dragosky M, Drelichman G, El-Beshlawy A, Fraga C, Freisens S, Gaemers S, Hadjiev E, Kishnani PS, Lukina E, Maison-Blanche P, Martins AM, Pastores G, Petakov M, Peterschmitt MJ, Rosenbaum H, Rosenbloom B, Underhill LH, Cox TM. Mistry PK, et al. Blood Cells Mol Dis. 2018 Jul;71:71-74. doi: 10.1016/j.bcmd.2018.04.001. Epub 2018 Apr 9. Blood Cells Mol Dis. 2018. PMID: 29680197 Free article. No abstract available.
Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.
Mistry PK, Balwani M, Baris HN, Turkia HB, Burrow TA, Charrow J, Cox GF, Danda S, Dragosky M, Drelichman G, El-Beshlawy A, Fraga C, Freisens S, Gaemers S, Hadjiev E, Kishnani PS, Lukina E, Maison-Blanche P, Martins AM, Pastores G, Petakov M, Peterschmitt MJ, Rosenbaum H, Rosenbloom B, Underhill LH, Cox TM. Mistry PK, et al. Blood Cells Mol Dis. 2019 Jul;77:101-102. doi: 10.1016/j.bcmd.2019.04.003. Epub 2019 Apr 9. Blood Cells Mol Dis. 2019. PMID: 31029022 No abstract available.
Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease.
Afinogenova Y, Ruan J, Yang R, Kleytman N, Pastores G, Lischuk A, Mistry PK. Afinogenova Y, et al. Among authors: mistry pk. Mol Genet Metab. 2019 Sep-Oct;128(1-2):62-67. doi: 10.1016/j.ymgme.2019.07.014. Epub 2019 Jul 23. Mol Genet Metab. 2019. PMID: 31358474 Free PMC article.
The road to biosimilars in rare diseases - ongoing lessons from Gaucher disease.
Drelichman G, Castañeda-Hernández G, Cem Ar M, Dragosky M, Garcia R, Lee H, Moiseev S, Naderi M, Rosenbaum H, Žnidar I, Zuluaga AF, Freisens S, Mistry PK. Drelichman G, et al. Among authors: mistry pk. Am J Hematol. 2020 Mar;95(3):233-237. doi: 10.1002/ajh.25701. Epub 2019 Dec 23. Am J Hematol. 2020. PMID: 31816110 Free PMC article. Review. No abstract available.
Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy.
Boddupalli CS, Nair S, Belinsky G, Gans J, Teeple E, Nguyen TH, Mehta S, Guo L, Kramer ML, Ruan J, Wang H, Davison M, Kumar D, Vidyadhara DJ, Zhang B, Klinger K, Mistry PK. Boddupalli CS, et al. Among authors: mistry pk. Elife. 2022 Aug 16;11:e79830. doi: 10.7554/eLife.79830. Elife. 2022. PMID: 35972072 Free PMC article.
180 results