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Best matches for gaucher disease:

Gaucher disease: haematological presentations and complications. Thomas AS et al. Br J Haematol. (2014)

Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Baris HN et al. Pediatr Endocrinol Rev. (2014)

Gaucher disease: a lysosomal neurodegenerative disorder. Huang WJ et al. Eur Rev Med Pharmacol Sci. (2015)

Search results

Items: 1 to 20 of 5398

1.

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]

2.

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.

3.

Longitudinal transcriptomic characterization of the immune response to acute hepatitis C virus infection in patients with spontaneous viral clearance.

Rosenberg BR, Depla M, Freije CA, Gaucher D, Mazouz S, Boisvert M, Bédard N, Bruneau J, Rice CM, Shoukry NH.

PLoS Pathog. 2018 Sep 17;14(9):e1007290. doi: 10.1371/journal.ppat.1007290. [Epub ahead of print]

4.

A novel Parkinson's disease risk variant, p. W378R, in the Gaucher's disease GBA gene.

Lubomski M, Hayes M, Kennerson M, Ellis M, Chu S, Blackie J, O'Sullivan JD, Nicholson G.

Mov Disord. 2018 Sep 14. doi: 10.1002/mds.106. [Epub ahead of print] No abstract available.

PMID:
30216542
5.

Enzyme replacement therapies: what is the best option?

Safary A, Akbarzadeh Khiavi M, Mousavi R, Barar J, Rafi MA.

Bioimpacts. 2018;8(3):153-157. doi: 10.15171/bi.2018.17. Epub 2018 Jul 7.

6.

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.

7.

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
8.

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
9.

Evaluation of λ-carrageenan, CpG-ODN, glycine betaine, Spirulina platensis and ergosterol as elicitors for the control of Zymoseptoria tritici in wheat.

LE Mire G, Siah A, Marolleau B, Gaucher M, Maumené C, Brostaux Y, Massart S, Brisset MN, Jijakli MH.

Phytopathology. 2018 Aug 30. doi: 10.1094/PHYTO-11-17-0367-R. [Epub ahead of print]

PMID:
30161014
10.

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
11.

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
12.

Delivery of Gba 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 Aug 18. doi: 10.1089/hum.2018.072. [Epub ahead of print]

PMID:
30122074
13.

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 Aug 11. pii: S1096-7192(18)30381-0. doi: 10.1016/j.ymgme.2018.08.004. [Epub ahead of print]

PMID:
30115580
14.

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.

15.

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.

PMID:
30108721
16.

Generation of osteoclasts from type 1 Gaucher patients and correlation with clinical and genetic features of disease.

Reed MC, Bauernfreund Y, Cunningham N, Beaton B, Mehta AB, Hughes DA.

Gene. 2018 Aug 9. pii: S0378-1119(18)30907-7. doi: 10.1016/j.gene.2018.08.045. [Epub ahead of print]

PMID:
30099023
17.

Exploring genetic modifiers of Gaucher disease: The next horizon.

Davidson BA, Hassan S, Garcia EJ, Tayebi N, Sidransky E.

Hum Mutat. 2018 Aug 10. doi: 10.1002/humu.23611. [Epub ahead of print] Review.

PMID:
30098107
18.

Cauda equina syndrome in a patient diagnosed with type 1 Gaucher disease: a rare case.

Sahinoglu M, Mutlukan A, Koktekir E, Karabagli H.

Childs Nerv Syst. 2018 Aug 9. doi: 10.1007/s00381-018-3946-z. [Epub ahead of print]

PMID:
30094495
19.

The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.

Wasserstein MP, Caggana M, Bailey SM, Desnick RJ, Edelmann L, Estrella L, Holzman I, Kelly NR, Kornreich R, Kupchik SG, Martin M, Nafday SM, Wasserman R, Yang A, Yu C, Orsini JJ.

Genet Med. 2018 Aug 10. doi: 10.1038/s41436-018-0129-y. [Epub ahead of print]

PMID:
30093709
20.

Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa.

Zimran A, Dinur T, Revel-Vilk S, Akkerman EM, van Dussen L, Hollak CEM, Maayan H, Altarescu G, Chertkoff R, Maas M.

J Inherit Metab Dis. 2018 Jul 31. doi: 10.1007/s10545-018-0195-y. [Epub ahead of print]

PMID:
30066229

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