Search Results

Niemann-Pick disease Type C: From molecule to clinic

Authors: Tang, Ying; Li, He; Liu, Jun-Ping

Source: Clinical and Experimental Pharmacology and Physiology, Volume 37, Number 1, January 2010 , pp. 132-140(9)

Publisher: Blackwell Publishing

Enzymatic and molecular strategies to diagnose Pompe disease

Authors: Reuser, AJJ; Verheijen, FW; Kroos, MA; Okumiya, T; Van Diggelen, OP; Van der Ploeg, AT; Halley, DJJ

Source: Expert Opinion on Medical Diagnostics, Volume 4, Number 1, January 2010 , pp. 79-89(11)

Publisher: Informa Healthcare

Immunomodulatory Gene Therapy in Lysosomal Storage Disorders

Authors: Koeberl, Dwight D.; Kishnani, Priya S.

Source: Current Gene Therapy, Volume 9, Number 6, December 2009 , pp. 503-510(8)

Publisher: Bentham Science Publishers

Enzyme therapy in Fabry disease: severe adverse events associated with anti-agalsidase cross-reactive IgG antibodies

Authors: Tesmoingt, Chloe; Lidove, Olivier; Reberga, Axele; Thetis, Marguerite; Ackaert, Chloe; Nicaise, Pascale; Arnaud, Philippe; Papo, Thomas

Source: British Journal of Clinical Pharmacology, Volume 68, Number 5, November 2009 , pp. 765-769(5)

Publisher: Blackwell Publishing

Enzyme Replacement Therapy for Fabry Disease: A Systematic Review of Available Evidence

Authors: Schaefer, Roland M.; Tylki-Szymańska, Anna; Hilz, Max J.

Source: Drugs, Volume 69, Number 16, 12 November 2009 , pp. 2179-2205(27)

Publisher: Adis International

Exclusion of NEU1 and PPGB from candidate genes for a lysosomal storage disease in Japanese Black cattle

Authors: MASOUDI, Ali Akbar; YAMATO, Osamu; YONEDA, Kazuhiro; TSUJI, Takehito; MIKAMI, Osamu; KUNIEDA, Tetsuo

Source: Animal Science Journal, Volume 80, Number 5, October 2009 , pp. 611-615(5)

Publisher: Blackwell Publishing

Aseptic meningitis and ischaemic stroke in Fabry disease

Authors: Lidove, O.; Chauveheid, M.-P.; Caillaud, C.; Froissart, R.; Benoist, L.; Alamowitch, S.; Doan, S.; Szalat, R.; Baumann, N.; Alexandra, J.-F.; Lavallée, P.; Klein, I.; Vuillemet, F.; Sedel, F.; Sacré, K.; Samson, Y.; Roullet, E.; Papo, T.

Source: International Journal of Clinical Practice, Volume 63, Number 11, November 2009 , pp. 1663-1667(5)

Publisher: Blackwell Publishing

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

Authors: Neumann, Juliane; Bras, Jose; Deas, Emma; O'Sullivan, Sean S.; Parkkinen, Laura; Lachmann, Robin H.; Li, Abi; Holton, Janice; Guerreiro, Rita; Paudel, Reema; Segarane, Badmavady; Singleton, Andrew; Lees, Andrew; Hardy, John; Houlden, Henry; Revesz, Tamas; Wood, Nicholas W.

Source: Brain, Volume 132, Number 7, 11 July 2009 , pp. 1783-1794(12)

Publisher: Oxford University Press

Cellular Therapy of Lysosomal Storage Disorders: Current Status and Future Prospects

Authors: Wynn, Robert F.; Stubbs, Matthew; Ozyilmaz, Nurdan; Wraith, J. E.; Bigger, Brian

Source: Current Pediatric Reviews, Volume 5, Number 3, August 2009 , pp. 147-159(13)

Publisher: Bentham Science Publishers

Gaucher disease: a model disorder for biomarker discovery

Authors: Boot, Rolf G; van Breemen, Mariëlle J; Wegdam, Wouter; Sprenger, Richard R; de Jong, Shreyas; Speijer, Dave; Hollak, Carla EM; Van Dussen, Laura; Hoefsloot, Huub CJ; Smilde, Age K; De Koster, Chris G; Vissers, Johannes PC; Aerts, Johannes MFG

Source: Expert Review of Proteomics, Volume 6, Number 4, August 2009 , pp. 411-419(9)

Publisher: Expert Reviews

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X)

Authors: Sarpong; Schottmann; Rüther; Stoltenburg; Kohlschütter; Hübner; Schuelke

Source: Clinical Genetics, Volume 76, Number 1, July 2009 , pp. 38-45(8)

Publisher: Blackwell Publishing

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations

Authors: Encarnação; Lacerda; Costa; Prata; Coutinho; Ribeiro; Lopes; Pineda; Ignatius; Galvez; Mustonen; Vieira; Lima; Alves

Source: Clinical Genetics, Volume 76, Number 1, July 2009 , pp. 76-84(9)

Publisher: Blackwell Publishing

Editorial [Hot Topic: Computational Approaches in Drug Research (Guest Editor: Carlton A. Taft)]

Author: Taft, Carlton A.

Source: Current Bioactive Compounds, Volume 5, Number 2, June 2009 , pp. 98-98(1)

Publisher: Bentham Science Publishers

Substrate-reduction therapy with miglustat for glycosphingolipid storage disorders affecting the brain

Author: Lachmann, Robin H

Source: Expert Review of Endocrinology and Metabolism, Volume 4, Number 3, May 2009 , pp. 217-224(8)

Publisher: Expert Reviews

The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease

Authors: Morel, Chantal F; Clarke, Joe TR

Source: Expert Opinion on Biological Therapy, Volume 9, Number 5, May 2009 , pp. 631-639(9)

Publisher: Informa Healthcare

Kidney transplantation in patients with Fabry disease

Authors: Cybulla, Markus; Walter, Kerstin Nanette; Schwarting, Andreas; DiVito, Raffaelle; Feriozzi, Sandro; Sunder-Plassmann, Gere

Source: Transplant International, Volume 22, Number 4, April 2009 , pp. 475-481(7)

Publisher: Blackwell Publishing

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis

Authors: Stogmann, E.; Tawil, S.; Wagenstaller, J.; Gaber, A.; Edris, S.; Abdelhady, A.; Assem-Hilger, E.; Leutmezer, F.; Bonelli, S.; Baumgartner, C.; Zimprich, F.; Strom, T.; Zimprich, A.

Source: Neurogenetics, Volume 10, Number 1, February 2009 , pp. 73-77(5)

Publisher: Springer

Examination of intravenous and intra-CSF protein delivery for treatment of neurological disease

Authors: Hemsley, Kim M.; Luck, Amanda J.; Crawley, Allison C.; Hassiotis, Sofia; Beard, Helen; King, Barbara; Rozek, Tomas; Rozaklis, Tina; Fuller, Maria; Hopwood, John J.

Source: European Journal of Neuroscience, Volume 29, Number 6, March 2009 , pp. 1197-1214(18)

Publisher: Blackwell Publishing

Farber Disease in a Newborn

Authors: Sana, Chaouki; Larbi, Elarqam; Samir, Atmani; Abdelhak, Bouharrou; Mustapha, Hida

Source: Pediatric Dermatology, Volume 26, Number 1, January/February 2009 , pp. 44-46(3)

Publisher: Blackwell Publishing

Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy

Authors: Önder, Evren; Sinici, Incilay; Sönmez, F. Müjgan; Topçu, Meral; Özkara, H. Asuman

Source: Neurological Research, Volume 31, Number 1, February 2009 , pp. 60-66(7)

Publisher: Maney Publishing