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Items: 1 to 20 of 5117

1.

Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease.

Perucca G, Soares BP, Staglianò S, Davison J, Chakrapani A, D'Arco F.

Neuroradiology. 2018 Oct 17. doi: 10.1007/s00234-018-2116-z. [Epub ahead of print]

PMID:
30328501
2.

Neurological effects of GBA mutations.

Mullin S, Hughes D, Mehta A, Schapira AHV.

Eur J Neurol. 2018 Oct 13. doi: 10.1111/ene.13837. [Epub ahead of print]

PMID:
30315684
3.

Altered brain functional network in children with type 1 Gaucher disease: a longitudinal graph theory-based study.

Zhang M, Wang S, Hu D, Kang H, Ouyang M, Zhang Y, Rao B, Huang H, Peng Y.

Neuroradiology. 2018 Oct 8. doi: 10.1007/s00234-018-2104-3. [Epub ahead of print]

PMID:
30298188
4.

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.

Sheth J, Pancholi D, Mistri M, Nath P, Ankleshwaria C, Bhavsar R, Puri R, Phadke S, Sheth F.

BMC Med Genet. 2018 Oct 1;19(1):178. doi: 10.1186/s12881-018-0687-5.

5.

Distinguishing the differences in beta-glycosylceramidase folds, dynamics, and actions informs therapeutic uses.

Ben Bdira F, Artola M, Overkleeft HS, Ubbink M, Aerts JM.

J Lipid Res. 2018 Oct 2. pii: jlr.R086629. doi: 10.1194/jlr.R086629. [Epub ahead of print]

6.

Outcomes after 8 Years of Eliglustat Therapy for Gaucher Disease Type 1: Final Results from the Phase 2 Trial.

Lukina E, Watman N, Dragosky M, Lau H, Arreguin EA, Rosenbaum H, Zimran A, Foster MC, Gaemers SJM, Peterschmitt MJ.

Am J Hematol. 2018 Sep 28. doi: 10.1002/ajh.25300. [Epub ahead of print]

PMID:
30264864
7.

Scope and Burden of Non-Standard of Care Hematopoietic Stem Cell Transplantation in Pediatric Leukodystrophy Patients.

Bonkowsky JL, Wilkes J, Shyr DC.

J Child Neurol. 2018 Sep 28:883073818798090. doi: 10.1177/0883073818798090. [Epub ahead of print]

PMID:
30261790
8.

Budget Impact Analysis of Eliglustat for the Treatment of Gaucher Disease Type 1 in the United States.

Nalysnyk L, Sugarman R, Cele C, Uyei J, Ward A.

J Manag Care Spec Pharm. 2018 Oct;24(10):1002-1008. doi: 10.18553/jmcp.2018.24.10.1002.

9.

Development of a Label-Free LC-MS/MS-Based Glucosylceramide Synthase Assay and Its Application to Inhibitors Screening for Ceramide-Related Diseases.

Fu Z, Yun SY, Won JH, Back MJ, Jang JM, Ha HC, Lee HK, Shin IC, Kim JY, Kim HS, Kim DK.

Biomol Ther (Seoul). 2018 Sep 20. doi: 10.4062/biomolther.2018.122. [Epub ahead of print]

10.

Retinal detachment in a boy with Gaucher disease.

Zhao TT, Li HL, Guo XJ, Luo J, Liu X, Fang F.

Int J Ophthalmol. 2018 Sep 18;11(9):1566-1568. doi: 10.18240/ijo.2018.09.23. eCollection 2018. No abstract available.

11.

A health state utility valuation study to assess the impact of treatment mode of administration in Gaucher disease.

Hadi M, Swinburn P, Nalysnyk L, Hamed A, Mehta A.

Orphanet J Rare Dis. 2018 Sep 10;13(1):159. doi: 10.1186/s13023-018-0903-6.

12.

Blood lysosphingolipids accumulation in patients with parkinson's disease with glucocerebrosidase 1 mutations.

Pchelina S, Baydakova G, Nikolaev M, Senkevich K, Emelyanov A, Kopytova A, Miliukhina I, Yakimovskii A, Timofeeva A, Berkovich O, Fedotova E, Illarioshkin S, Zakharova E.

Mov Disord. 2018 Aug;33(8):1325-1330. doi: 10.1002/mds.27393. Epub 2018 Sep 7.

PMID:
30192031
13.

Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.

Krause A, Seymour H, Ramsay M.

Annu Rev Genomics Hum Genet. 2018 Aug 31;19:149-175. doi: 10.1146/annurev-genom-083117-021256.

PMID:
30169122
14.

Mitochondrial dysfunction and mitophagy defect triggered by heterozygous GBA mutations.

Li H, Ham A, Ma TC, Kuo SH, Kanter E, Kim D, Ko HS, Quan Y, Sardi SP, Li A, Arancio O, Kang UJ, Sulzer D, Tang G.

Autophagy. 2018 Oct 12:1-18. doi: 10.1080/15548627.2018.1509818. [Epub ahead of print]

PMID:
30160596
15.

Intra-monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher Disease Type 1.

Berger J, Vigan M, Pereira B, Nguyen TT, Froissart R, Belmatoug N, Dalbiès F, Masseau A, Rose C, Serratrice C, Pers YM, Bertchansky I, Camou F, Bengherbia M, Bourgne C, Caillaud C, Pettazzoni M, Berrahal A, Stirnemann J, Mentré F, Berger MG.

Clin Pharmacokinet. 2018 Aug 21. doi: 10.1007/s40262-018-0708-8. [Epub ahead of print]

PMID:
30128966
16.

Enzyme Replacement Therapy in a Gaucher Family.

Erdem N, Buran T, Berber I, Aydogdu I.

J Natl Med Assoc. 2018 Aug;110(4):330-333. doi: 10.1016/j.jnma.2017.06.013. Epub 2017 Jul 14.

PMID:
30126557
17.

Delivery of Glucosylceramidase Beta Gene Using AAV9 Vector Therapy as a Treatment Strategy in Mouse Models of Gaucher Disease.

Du S, Ou H, Cui R, Jiang N, Zhang M, Li X, Ma J, Zhang J, Ma D.

Hum Gene Ther. 2018 Oct 16. doi: 10.1089/hum.2018.072. [Epub ahead of print]

PMID:
30122074
18.

Prevalence and predictors of liver fibrosis evaluated by vibration controlled transient elastography in type 1 Gaucher disease.

Nascimbeni F, Cassinerio E, Dalla Salda A, Motta I, Bursi S, Donatiello S, Spina V, Cappellini MD, Carubbi F.

Mol Genet Metab. 2018 Sep;125(1-2):64-72. doi: 10.1016/j.ymgme.2018.08.004. Epub 2018 Aug 11.

PMID:
30115580
19.

A multicenter, open-label, phase III study of Abcertin in Gaucher disease: Erratum.

[No authors listed]

Medicine (Baltimore). 2018 Aug;97(33):e12066. doi: 10.1097/MD.0000000000012066. No abstract available.

20.

Orthoester functionalized N-guanidino derivatives of 1,5-dideoxy-1,5-imino-d-xylitol as pH-responsive inhibitors of β-glucocerebrosidase.

Sevšek A, Sastre Toraño J, Quarles van Ufford L, Moret EE, Pieters RJ, Martin NI.

Medchemcomm. 2017 Oct 10;8(11):2050-2054. doi: 10.1039/c7md00480j. eCollection 2017 Nov 1.

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