Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

95 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Reply to Mistry et al. The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on "Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11, 5158".
Hughes DA, Deegan P, Giraldo P, Göker-Alpan Ö, Lau H, Lukina E, Revel-Vilk S, Scarpa M, Botha J, Gadir N, Zimran A; GOS Steering Committee. Hughes DA, et al. Among authors: goker alpan o. J Clin Med. 2023 Jun 13;12(12):4017. doi: 10.3390/jcm12124017. J Clin Med. 2023. PMID: 37373710 Free PMC article.
A pilot study of omalizumab in eosinophilic esophagitis.
Loizou D, Enav B, Komlodi-Pasztor E, Hider P, Kim-Chang J, Noonan L, Taber T, Kaushal S, Limgala R, Brown M, Gupta R, Balba N, Goker-Alpan O, Khojah A, Alpan O. Loizou D, et al. PLoS One. 2015 Mar 19;10(3):e0113483. doi: 10.1371/journal.pone.0113483. eCollection 2015. PLoS One. 2015. PMID: 25789989 Free PMC article. Clinical Trial.
Gaucher mutation N188S is associated with myoclonic epilepsy.
Kowarz L, Goker-Alpan O, Banerjee-Basu S, LaMarca ME, Kinlaw L, Schiffmann R, Baxevanis AD, Sidransky E. Kowarz L, et al. Hum Mutat. 2005 Sep;26(3):271-3; author reply 274-5. doi: 10.1002/humu.20217. Hum Mutat. 2005. PMID: 16086325
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study.
Pena LDM, Barohn RJ, Byrne BJ, Desnuelle C, Goker-Alpan O, Ladha S, Laforêt P, Mengel KE, Pestronk A, Pouget J, Schoser B, Straub V, Trivedi J, Van Damme P, Vissing J, Young P, Kacena K, Shafi R, Thurberg BL, Culm-Merdek K, van der Ploeg AT; NEO1 Investigator Group. Pena LDM, et al. Neuromuscul Disord. 2019 Mar;29(3):167-186. doi: 10.1016/j.nmd.2018.12.004. Epub 2018 Dec 17. Neuromuscul Disord. 2019. PMID: 30770310 Free article. Clinical Trial.
95 results