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Items: 1 to 20 of 360

1.

Pharmacotherapy of Gaucher Disease: Current and Future Options.

Bennett LL, Fellner C.

P T. 2018 May;43(5):274-309.

2.

Probing the Inhibitor versus Chaperone Properties of sp²-Iminosugars towards Human β-Glucocerebrosidase: A Picomolar Chaperone for Gaucher Disease.

Mena-Barragán T, García-Moreno MI, Sevšek A, Okazaki T, Nanba E, Higaki K, Martin NI, Pieters RJ, Fernández JMG, Mellet CO.

Molecules. 2018 Apr 17;23(4). pii: E927. doi: 10.3390/molecules23040927.

3.

Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.

Bulut FD, Kör D, Şeker-Yılmaz B, Hergüner Ö, Ceylaner S, Özkınay F, Kılavuz S, Önenli-Mungan N.

Metab Brain Dis. 2018 Apr 14. doi: 10.1007/s11011-018-0236-0. [Epub ahead of print]

PMID:
29656334
4.

High-risk screening for Gaucher disease in patients with neurological symptoms.

Momosaki K, Kido J, Matsumoto S, Yoshida S, Takei A, Miyabayashi T, Sugawara K, Endo F, Nakamura K.

J Hum Genet. 2018 Jun;63(6):717-721. doi: 10.1038/s10038-018-0438-7. Epub 2018 Mar 30.

PMID:
29602947
5.

Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics.

Gaucher Disease Task Force, Puri RD, Kapoor S, Kishnani PS, Dalal A, Gupta N, Muranjan M, Phadke SR, Sachdeva A, Verma IC, Mistry PK.

Indian Pediatr. 2018 Feb 15;55(2):143-153.

6.

Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings.

Bremova-Ertl T, Schiffmann R, Patterson MC, Belmatoug N, Billette de Villemeur T, Bardins S, Frenzel C, Malinová V, Naumann S, Arndt J, Mengel E, Reinke J, Strobl R, Strupp M.

Front Neurol. 2018 Jan 15;8:711. doi: 10.3389/fneur.2017.00711. eCollection 2017.

7.

Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.

Hagege E, Grey RJ, Lopez G, Roshan Lal T, Sidransky E, Tayebi N.

Am J Med Genet A. 2017 Dec;173(12):3211-3215. doi: 10.1002/ajmg.a.38487. Epub 2017 Nov 1.

PMID:
29091352
8.

Hematopoietic stem cell transplantation for Gaucher disease.

Somaraju UR, Tadepalli K.

Cochrane Database Syst Rev. 2017 Oct 18;10:CD006974. doi: 10.1002/14651858.CD006974.pub4. Review.

PMID:
29044482
9.

Reduced cerebral vascularization in experimental neuronopathic Gaucher disease.

Smith NJ, Fuller M, Saville JT, Cox TM.

J Pathol. 2018 Jan;244(1):120-128. doi: 10.1002/path.4992.

PMID:
28981147
10.

The Spectrum of Neurological Manifestations Associated with Gaucher Disease.

Roshan Lal T, Sidransky E.

Diseases. 2017 Mar 2;5(1). pii: E10. doi: 10.3390/diseases5010010. Review.

11.

Glucosylceramide and Glucosylsphingosine Quantitation by Liquid Chromatography-Tandem Mass Spectrometry to Enable In Vivo Preclinical Studies of Neuronopathic Gaucher Disease.

Hamler R, Brignol N, Clark SW, Morrison S, Dungan LB, Chang HH, Khanna R, Frascella M, Valenzano KJ, Benjamin ER, Boyd RE.

Anal Chem. 2017 Aug 15;89(16):8288-8295. doi: 10.1021/acs.analchem.7b01442. Epub 2017 Jul 26.

PMID:
28686011
12.

Thrombocytopenia and GBA gene mutation in a patient with adult type 1 Gaucher disease.

Wan L, Wu H, Xie F, Nie Y.

Platelets. 2017 Dec;28(8):829-831. doi: 10.1080/09537104.2017.1306044. Epub 2017 Jun 5.

PMID:
28580830
13.

Lipid composition of microdomains is altered in neuronopathic Gaucher disease sheep brain and spleen.

Hein LK, Rozaklis T, Adams MK, Hopwood JJ, Karageorgos L.

Mol Genet Metab. 2017 Jul;121(3):259-270. doi: 10.1016/j.ymgme.2017.05.010. Epub 2017 May 17.

PMID:
28532689
14.

Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy.

Kim YM, Shin DH, Park SB, Cheon CK, Yoo HW.

BMC Med Genet. 2017 May 15;18(1):55. doi: 10.1186/s12881-017-0403-x.

15.

Severe cardiac involvement in Gaucher type IIIC: a case report and review of the literature.

Kör Y, Keskin M, Başpınar O.

Cardiol Young. 2017 Sep;27(7):1426-1429. doi: 10.1017/S1047951117000579. Epub 2017 Apr 10. Review.

PMID:
28393750
16.

Modelling long-term evolution of chitotriosidase in non-neuronopathic Gaucher disease.

Drugan C, Drugan TC, Grigorescu-Sido P, Naşcu I.

Scand J Clin Lab Invest. 2017 Jul;77(4):275-282. doi: 10.1080/00365513.2017.1303191. Epub 2017 Mar 20.

PMID:
28319420
17.

Oral ambroxol increases brain glucocerebrosidase activity in a nonhuman primate.

Migdalska-Richards A, Ko WKD, Li Q, Bezard E, Schapira AHV.

Synapse. 2017 Jul;71(7). doi: 10.1002/syn.21967. Epub 2017 Mar 17.

18.

Investigations on therapeutic glucocerebrosidases through paired detection with fluorescent activity-based probes.

Kallemeijn WW, Scheij S, Hoogendoorn S, Witte MD, Herrera Moro Chao D, van Roomen CP, Ottenhoff R, Overkleeft HS, Boot RG, Aerts JM.

PLoS One. 2017 Feb 16;12(2):e0170268. doi: 10.1371/journal.pone.0170268. eCollection 2017.

19.

Children with type 1 Gaucher disease: Changing profiles in the 21st century.

Elstein D, Altarescu G, Abrahamov A, Zimran A.

Blood Cells Mol Dis. 2018 Feb;68:93-96. doi: 10.1016/j.bcmd.2016.12.009. Epub 2016 Dec 19.

PMID:
28185830
20.

Fluorinated Chaperone-β-Cyclodextrin Formulations for β-Glucocerebrosidase Activity Enhancement in Neuronopathic Gaucher Disease.

García-Moreno MI, de la Mata M, Sánchez-Fernández EM, Benito JM, Díaz-Quintana A, Fustero S, Nanba E, Higaki K, Sánchez-Alcázar JA, García Fernández JM, Ortiz Mellet C.

J Med Chem. 2017 Mar 9;60(5):1829-1842. doi: 10.1021/acs.jmedchem.6b01550. Epub 2017 Feb 22.

PMID:
28171725

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