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Storage diseases
LE WE PMID CA
Storage diseases2582Speichererkrankung

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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