Storage diseases

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Storage diseases

LE WE PMID CA

Storage diseases

2582

Speichererkrankung

Drug delivery

Eye and orbita (Biopsy)

Fabry s disease

Gangliosides

Gaucher s disease

Glycosphingolipid

Inhibodies

Mitophagy

Neonatal screening

Storage diseases

2001 1	Advances in the treatment of lysosomal storage disease. [11570635] Dev Med Child Neurol 43(9): 639-46 (2001)
2002 2	The neuropathogenic contributions of lysosomal dysfunction. [12390510] J Neurochem 83(3): 481-9 (2002)
2007 3	The heart in Anderson-Fabry disease and other lysosomal storage disorders. [17401074] Heart 93(4): 528-35 (2007)
2000 4	Membrane traffic in sphingolipid storage diseases. [11208071] Traffic 1(11): 807-15 (2000)
2007 5	Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases. [17998597] J Appl Genet 48(4): 383-8 (2007)
2003 6	Substrate reduction therapy in mouse models of the glycosphingolipidoses. [12803928] Philos Trans R Soc Lond B Biol Sci 358(1433): 947-54 (2003)
2003 7	Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders. [12803927] Philos Trans R Soc Lond B Biol Sci 358(1433): 927-45 (2003)
2003 8	Enzyme replacement therapy: conception, chaos and culmination. [12803925] Philos Trans R Soc Lond B Biol Sci 358(1433): 915-9 (2003)
2003 9	Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention. [12803924] Philos Trans R Soc Lond B Biol Sci 358(1433): 905-14 (2003)
2003 10	Neurobiology and cellular pathogenesis of glycolipid storage diseases. [12803923] Philos Trans R Soc Lond B Biol Sci 358(1433): 893-904 (2003)
2003 11	Endocytic trafficking of glycosphingolipids in sphingolipid storage diseases. [12803922] Philos Trans R Soc Lond B Biol Sci 358(1433): 885-91 (2003)
2003 12	Insights into the diagnosis and treatment of lysosomal storage diseases. [12633142] Arch Neurol 60(3): 322-8 (2003)
2009 13	Lysosomal storage disorders in the newborn. [19336380] Pediatrics 123(4): 1191-207 (2009)
2002 14	Endoplasmic reticulum storage diseases. [12087487] Swiss Med Wkly 132(17-18): 211-22 (2002)
1987 15	The efficacy of conjunctival biopsy as a screening technique in lysosomal storage disorders. [3328919] Trans Am Ophthalmol Soc 85(-): 471-97 (1987)
2011 16	Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders. [21612550] Assay Drug Dev Technol 9(3): 213-35 (2011)
2007 17	Update on treatment of lysosomal storage diseases. [17915580] Acta Myol 26(1): 87-92 (2007)
2004 18	The clinical presentation of lysosomal storage disorders. [15508935] Acta Neurol Taiwan 13(3): 101-6 (2004)
2010 19	Lysosomal storage disease: revealing lysosomal function and physiology. [20430954] Physiology (Bethesda) 25(2): 102-15 (2010)
2010 20	Common and uncommon pathogenic cascades in lysosomal storage diseases. [20430897] J Biol Chem 285(27): 20423-7 (2010)
2010 21	Multi-system disorders of glycosphingolipid and ganglioside metabolism. [20211931] J Lipid Res 51(7): 1643-75 (2010)
2006 22	Immunochemistry of lysosomal storage disorders. [16840586] Clin Chem 52(9): 1660-8 (2006)
2010 23	Newborn screening of lysosomal storage disorders. [20489136] Clin Chem 56(7): 1071-9 (2010)
2005 24	Newborn screening for lysosomal storage disorders. [15855665] Clin Chem 51(5): 808-9 (2005)
2010 25	New strategies for enzyme replacement therapy for lysosomal storage diseases. [20345279] Rejuvenation Res 13(2-3): 229-36 (2010)
2011 26	Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. [21445610] J Inherit Metab Dis 34(3): 605-19 (2011)
2009 27	Pathogenic cascades in lysosomal disease-Why so complex? [19130290] J Inherit Metab Dis 32(2): 181-9 (2009)
2008 28	Mitochondrial Ca2+ homeostasis in lysosomal storage diseases. [18242695] Cell Calcium 44(1): 103-11 (2008)

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