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Items: 1 to 20 of 138

1.

Intracellular Cholesterol Trafficking and Impact in Neurodegeneration.

Arenas F, Garcia-Ruiz C, Fernandez-Checa JC.

Front Mol Neurosci. 2017 Nov 17;10:382. doi: 10.3389/fnmol.2017.00382. eCollection 2017. Review.

2.

Cyclodextrins and Iatrogenic Hearing Loss: New Drugs with Significant Risk.

Crumling MA, King KA, Duncan RK.

Front Cell Neurosci. 2017 Nov 8;11:355. doi: 10.3389/fncel.2017.00355. eCollection 2017. Review.

3.

Lysosomal storage diseases.

Ferreira CR, Gahl WA.

Transl Sci Rare Dis. 2017 May 25;2(1-2):1-71. doi: 10.3233/TRD-160005. Review.

4.

Microglial involvement in the development of olfactory dysfunction.

Seo Y, Kim HS, Kang KS.

J Vet Sci. 2017 Oct 13. [Epub ahead of print] Review.

PMID:
29032655
5.

The role of epigenetics in lysosomal storage disorders: Uncharted territory.

Hassan S, Sidransky E, Tayebi N.

Mol Genet Metab. 2017 Nov;122(3):10-18. doi: 10.1016/j.ymgme.2017.07.012. Epub 2017 Aug 1. Review.

PMID:
28918065
6.

Exacerbating and reversing lysosomal storage diseases: from yeast to humans.

Rajakumar T, Munkacsi AB, Sturley SL.

Microb Cell. 2017 Aug 25;4(9):278-293. doi: 10.15698/mic2017.09.588. Review.

7.

Steryl ester synthesis, storage and hydrolysis: A contribution to sterol homeostasis.

Korber M, Klein I, Daum G.

Biochim Biophys Acta. 2017 Dec;1862(12):1534-1545. doi: 10.1016/j.bbalip.2017.09.002. Epub 2017 Sep 6. Review.

PMID:
28888831
8.

Overview of immune abnormalities in lysosomal storage disorders.

Rigante D, Cipolla C, Basile U, Gulli F, Savastano MC.

Immunol Lett. 2017 Aug;188:79-85. doi: 10.1016/j.imlet.2017.07.004. Epub 2017 Jul 4. Review.

PMID:
28687233
9.

Induced pluripotent stem cell models of lysosomal storage disorders.

Borger DK, McMahon B, Roshan Lal T, Serra-Vinardell J, Aflaki E, Sidransky E.

Dis Model Mech. 2017 Jun 1;10(6):691-704. doi: 10.1242/dmm.029009. Review.

10.

Cataplexy and Its Mimics: Clinical Recognition and Management.

Pillen S, Pizza F, Dhondt K, Scammell TE, Overeem S.

Curr Treat Options Neurol. 2017 Jun;19(6):23. doi: 10.1007/s11940-017-0459-0. Review.

PMID:
28478511
11.

Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.

Saffari A, Kölker S, Hoffmann GF, Ebrahimi-Fakhari D.

J Inherit Metab Dis. 2017 Sep;40(5):631-640. doi: 10.1007/s10545-017-0048-0. Epub 2017 May 5. Review.

PMID:
28477283
12.

Niemann-Pick type C disease - the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment.

Evans WR, Hendriksz CJ.

BJPsych Bull. 2017 Apr;41(2):109-114. doi: 10.1192/pb.bp.116.054072. Review.

13.

Investigational therapies for hypercholesterolemia.

Tomkin GH, Owens D.

Expert Opin Investig Drugs. 2017 May;26(5):603-617. doi: 10.1080/13543784.2017.1315407. Epub 2017 Apr 13. Review.

PMID:
28368771
14.

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.

Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, de Koning TJ, Degtyareva A, Dionisi-Vici C, Doss S, Duning T, Giunti P, Iodice R, Johnston T, Kelly D, Klünemann HH, Lorenzl S, Padovani A, Pocovi M, Synofzik M, Terblanche A, Then Bergh F, Topçu M, Tranchant C, Walterfang M, Velten C, Kolb SA.

Curr Med Res Opin. 2017 May;33(5):877-890. doi: 10.1080/03007995.2017.1294054. Epub 2017 Mar 2. Review.

PMID:
28276873
15.

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).

McGovern MM, Avetisyan R, Sanson BJ, Lidove O.

Orphanet J Rare Dis. 2017 Feb 23;12(1):41. doi: 10.1186/s13023-017-0572-x. Review.

16.

Effect of Inhibition of Intestinal Cholesterol Absorption on the Prevention of Cholesterol Gallstone Formation.

Portincasa P, Wang DQ.

Med Chem. 2017;13(5):421-429. doi: 10.2174/1573406413666170209122851. Review.

PMID:
28185534
17.

Types A and B Niemann-Pick disease.

Schuchman EH, Desnick RJ.

Mol Genet Metab. 2017 Jan - Feb;120(1-2):27-33. doi: 10.1016/j.ymgme.2016.12.008. Epub 2016 Dec 16. Review.

PMID:
28164782
18.

Early experience with compassionate use of 2 hydroxypropyl-beta-cyclodextrin for Niemann-Pick type C disease: review of initial published cases.

Megías-Vericat JE, García-Robles A, Company-Albir MJ, Fernández-Megía MJ, Pérez-Miralles FC, López-Briz E, Casanova B, Poveda JL.

Neurol Sci. 2017 May;38(5):727-743. doi: 10.1007/s10072-017-2833-9. Epub 2017 Feb 2. Review.

PMID:
28155026
19.

Adenosine receptors: Modulators of lipid availability that are controlled by lipid levels.

Leiva A, Guzmán-Gutiérrez E, Contreras-Duarte S, Fuenzalida B, Cantin C, Carvajal L, Salsoso R, Gutiérrez J, Pardo F, Sobrevia L.

Mol Aspects Med. 2017 Jun;55:26-44. doi: 10.1016/j.mam.2017.01.007. Epub 2017 Jan 31. Review.

PMID:
28153452
20.

Transporters for the Intestinal Absorption of Cholesterol, Vitamin E, and Vitamin K.

Yamanashi Y, Takada T, Kurauchi R, Tanaka Y, Komine T, Suzuki H.

J Atheroscler Thromb. 2017 Apr 3;24(4):347-359. doi: 10.5551/jat.RV16007. Epub 2017 Jan 17. Review.

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