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Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.
Mehta A, Kuter DJ, Salek SS, Belmatoug N, Bembi B, Bright J, Vom Dahl S, Deodato F, Di Rocco M, Göker-Alpan O, Hughes DA, Lukina EA, Machaczka M, Mengel E, Nagral A, Nakamura K, Narita A, Oliveri B, Pastores G, Pérez-López J, Ramaswami U, Schwartz IV, Szer J, Weinreb NJ, Zimran A. Mehta A, et al. Among authors: nakamura k. Intern Med J. 2019 May;49(5):578-591. doi: 10.1111/imj.14156. Intern Med J. 2019. PMID: 30414226 Free PMC article. Review.
Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.
Mehta A, Belmatoug N, Bembi B, Deegan P, Elstein D, Göker-Alpan Ö, Lukina E, Mengel E, Nakamura K, Pastores GM, Pérez-López J, Schwartz I, Serratrice C, Szer J, Zimran A, Di Rocco M, Panahloo Z, Kuter DJ, Hughes D. Mehta A, et al. Among authors: nakamura k. Mol Genet Metab. 2017 Nov;122(3):122-129. doi: 10.1016/j.ymgme.2017.08.002. Epub 2017 Aug 4. Mol Genet Metab. 2017. PMID: 28847676 Free article.
A Sporadic Case of Fabry Disease Involving Repeated Fever, Psychiatric Symptoms, Headache, and Ischemic Stroke in an Adult Japanese Woman.
Sawada J, Katayama T, Kano K, Asanome A, Takahashi K, Saito T, Chinda J, Nakagawa N, Sato N, Kimura T, Yahara O, Momosaki K, Nakamura K, Hasebe N. Sawada J, et al. Among authors: nakamura k. Intern Med. 2015;54(23):3069-74. doi: 10.2169/internalmedicine.54.4719. Epub 2015 Dec 1. Intern Med. 2015. PMID: 26631895 Free article.
Erratum for Screening for Gaucher Disease Using Dried Blood Spot Tests: A Japanese Multicenter, Cross-sectional Survey.
Miyamoto T, Iino M, Komorizono Y, Kiguchi T, Furukawa N, Otsuka M, Sawada S, Okamoto Y, Yamauchi K, Muto T, Fujisaki T, Tsurumi H, Nakamura K. Miyamoto T, et al. Among authors: nakamura k. Intern Med. 2021;60(14):2347. doi: 10.2169/internalmedicine.E005-21. Epub 2021 Jul 15. Intern Med. 2021. PMID: 34261827 Free PMC article. No abstract available.
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