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Quoted phrase not found in phrase index: "Gaucher disease type 3A"
Page 1
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.
Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG. Stirnemann J, et al. Int J Mol Sci. 2017 Feb 17;18(2):441. doi: 10.3390/ijms18020441. Int J Mol Sci. 2017. PMID: 28218669 Free PMC article. Review.
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. ...Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions), is characterized by effects on the viscera, whe …
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. ...Type-1 Gaucher disease …
High-frequency component in flash visual evoked potentials in type 3 Gaucher disease.
Oguri M, Saito Y, Okanishi T, Matuura Y, Akiyama S, Ikeguchi T, Narita A, Hirooka Y, Maegaki Y. Oguri M, et al. Brain Dev. 2020 Jan;42(1):19-27. doi: 10.1016/j.braindev.2019.08.005. Epub 2019 Sep 24. Brain Dev. 2020. PMID: 31561936
OBJECTIVE: To characterize the visual evoked potentials (VEP) in patients with type 3 Gaucher disease (GD) with or without progressive myoclonus epilepsy. ...Pattern reversal visual evoked potentials (PR-VEP) were recorded in the type 3a group. …
OBJECTIVE: To characterize the visual evoked potentials (VEP) in patients with type 3 Gaucher disease (GD) with or with …
Polyneuropathy in Gaucher disease type 1 and 3 - a descriptive case series.
Andréasson M, Solders G, Björkvall CK, Machaczka M, Svenningsson P. Andréasson M, et al. Sci Rep. 2019 Oct 25;9(1):15358. doi: 10.1038/s41598-019-51976-2. Sci Rep. 2019. PMID: 31653957 Free PMC article.
Polyneuropathy (PNP) has been reported to be a possible phenotypic feature in Gaucher disease type 1 (GD1), while less is known about PNP in type 3 (GD3). ...A large fiber PNP was evident in an additional 3 GD1 patients but could not be ascribed as …
Polyneuropathy (PNP) has been reported to be a possible phenotypic feature in Gaucher disease type 1 (GD1), while less …
Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1.
Stirnemann J, Rose C, Serratrice C, Dalbies F, Lidove O, Masseau A, Pers YM, Baron C, Belmatoug N. Stirnemann J, et al. Orphanet J Rare Dis. 2015 May 13;10:62. doi: 10.1186/s13023-015-0275-0. Orphanet J Rare Dis. 2015. PMID: 25968608 Free PMC article.
BACKGROUND: In 2009, a worldwide supply constraint of imiglucerase led to treatment modifications or interruptions for patients with Gaucher disease (GD) type 1. In France, joint treatment recommendations were issued to protect the most vulnerable patients. . …
BACKGROUND: In 2009, a worldwide supply constraint of imiglucerase led to treatment modifications or interruptions for patients with Gauc …