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Results: 1 to 20 of 162

1.

Receptor-mediated endocytosis of α-galactosidase A in human podocytes in Fabry disease.

Prabakaran T, Nielsen R, Larsen JV, Sørensen SS, Feldt-Rasmussen U, Saleem MA, Petersen CM, Verroust PJ, Christensen EI.

PLoS One. 2011;6(9):e25065. doi: 10.1371/journal.pone.0025065. Epub 2011 Sep 19.

PMID:
21949853
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease.

Zimran A, Brill-Almon E, Chertkoff R, Petakov M, Blanco-Favela F, Muñoz ET, Solorio-Meza SE, Amato D, Duran G, Giona F, Heitner R, Rosenbaum H, Giraldo P, Mehta A, Park G, Phillips M, Elstein D, Altarescu G, Szleifer M, Hashmueli S, Aviezer D.

Blood. 2011 Nov 24;118(22):5767-73. doi: 10.1182/blood-2011-07-366955. Epub 2011 Sep 6. Erratum in: Blood. 2012 May 10;119(19):4577.

PMID:
21900191
[PubMed - indexed for MEDLINE]
Free Article
3.

CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy.

Sardi SP, Clarke J, Kinnecom C, Tamsett TJ, Li L, Stanek LM, Passini MA, Grabowski GA, Schlossmacher MG, Sidman RL, Cheng SH, Shihabuddin LS.

Proc Natl Acad Sci U S A. 2011 Jul 19;108(29):12101-6. doi: 10.1073/pnas.1108197108. Epub 2011 Jul 5.

PMID:
21730160
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Exploring the link between glucocerebrosidase mutations and parkinsonism.

Westbroek W, Gustafson AM, Sidransky E.

Trends Mol Med. 2011 Sep;17(9):485-93. doi: 10.1016/j.molmed.2011.05.003. Epub 2011 Jul 1. Review.

PMID:
21723784
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies.

Mazzulli JR, Xu YH, Sun Y, Knight AL, McLean PJ, Caldwell GA, Sidransky E, Grabowski GA, Krainc D.

Cell. 2011 Jul 8;146(1):37-52. doi: 10.1016/j.cell.2011.06.001. Epub 2011 Jun 23.

PMID:
21700325
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

From serendipity to therapy.

Neufeld EF.

Annu Rev Biochem. 2011;80:1-15. doi: 10.1146/annurev.biochem.031209.093756.

PMID:
21675915
[PubMed - indexed for MEDLINE]
7.

Significant and continuous improvement in bone mineral density among type 1 Gaucher disease patients treated with velaglucerase alfa: 69-month experience, including dose reduction.

Elstein D, Foldes AJ, Zahrieh D, Cohn GM, Djordjevic M, Brutaru C, Zimran A.

Blood Cells Mol Dis. 2011 Jun 15;47(1):56-61. doi: 10.1016/j.bcmd.2011.04.005. Epub 2011 May 4.

PMID:
21536468
[PubMed - indexed for MEDLINE]
8.

Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing.

Cullen V, Sardi SP, Ng J, Xu YH, Sun Y, Tomlinson JJ, Kolodziej P, Kahn I, Saftig P, Woulfe J, Rochet JC, Glicksman MA, Cheng SH, Grabowski GA, Shihabuddin LS, Schlossmacher MG.

Ann Neurol. 2011 Jun;69(6):940-53. doi: 10.1002/ana.22400. Epub 2011 Apr 6.

PMID:
21472771
[PubMed - indexed for MEDLINE]
9.

Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy.

Lo SM, Liu J, Chen F, Pastores GM, Knowles J, Boxer M, Aleck K, Mistry PK.

J Inherit Metab Dis. 2011 Jun;34(3):643-50. doi: 10.1007/s10545-011-9313-9. Epub 2011 Mar 29.

PMID:
21445609
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Impaired platelet function and peripartum bleeding in women with Gaucher disease.

Simchen MJ, Oz R, Shenkman B, Zimran A, Elstein D, Kenet G.

Thromb Haemost. 2011 Mar;105(3):509-14. doi: 10.1160/TH10-07-0503. Epub 2011 Feb 8.

PMID:
21301776
[PubMed - indexed for MEDLINE]
11.

Gaucher's disease with valvular, myocardial and aortic involvement in a patient with oculomotor apraxia.

Aksu T, Baysal E, Bıyıkoğlu F, Tüfekçioğlu O.

Anadolu Kardiyol Derg. 2011 Jan 25;11(1):E4-5. doi: 10.5152/akd.2011.023. No abstract available.

PMID:
21220233
[PubMed - indexed for MEDLINE]
Free Article
12.

Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy.

Deegan PB, Pavlova E, Tindall J, Stein PE, Bearcroft P, Mehta A, Hughes D, Wraith JE, Cox TM.

Medicine (Baltimore). 2011 Jan;90(1):52-60. doi: 10.1097/MD.0b013e3182057be4.

PMID:
21200186
[PubMed - indexed for MEDLINE]
13.

Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults.

Mistry PK, Weinreb NJ, Kaplan P, Cole JA, Gwosdow AR, Hangartner T.

Blood Cells Mol Dis. 2011 Jan 15;46(1):66-72. doi: 10.1016/j.bcmd.2010.10.011. Epub 2010 Nov 26.

PMID:
21112800
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Improving the accuracy of MRI spleen and liver volume measurements: a phase III Gaucher disease clinical trial setting as a model.

Bracoud L, Ahmad H, Brill-Almon E, Chertkoff R.

Blood Cells Mol Dis. 2011 Jan 15;46(1):47-52. doi: 10.1016/j.bcmd.2010.10.009. Epub 2010 Nov 17.

PMID:
21084202
[PubMed - indexed for MEDLINE]
15.

Orphan drug pricing may warrant a competition law investigation.

Roos JC, Hyry HI, Cox TM.

BMJ. 2010 Nov 16;341:c6471. doi: 10.1136/bmj.c6471. No abstract available.

PMID:
21081598
[PubMed - indexed for MEDLINE]
16.

A fascination with sugars.

Kornfeld S.

Mol Biol Cell. 2010 Nov 15;21(22):3773-5. doi: 10.1091/mbc.E10-05-0417.

PMID:
21079006
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry.

Rosenbloom B, Balwani M, Bronstein JM, Kolodny E, Sathe S, Gwosdow AR, Taylor JS, Cole JA, Zimran A, Weinreb NJ.

Blood Cells Mol Dis. 2011 Jan 15;46(1):95-102. doi: 10.1016/j.bcmd.2010.10.006. Epub 2010 Nov 10.

PMID:
21067946
[PubMed - indexed for MEDLINE]
18.

A monozygotic twin pair with highly discordant Gaucher phenotypes.

Biegstraaten M, van Schaik IN, Aerts JM, Langeveld M, Mannens MM, Bour LJ, Sidransky E, Tayebi N, Fitzgibbon E, Hollak CE.

Blood Cells Mol Dis. 2011 Jan 15;46(1):39-41. doi: 10.1016/j.bcmd.2010.10.007. Epub 2010 Nov 5.

PMID:
21056933
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.

Gupta N, Oppenheim IM, Kauvar EF, Tayebi N, Sidransky E.

Blood Cells Mol Dis. 2011 Jan 15;46(1):75-84. doi: 10.1016/j.bcmd.2010.08.012. Epub 2010 Sep 28. Review.

PMID:
20880730
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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