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Der Nephrologe, ISSN 1862-040X, 5/2015, Volume 10, Issue 3, pp. 207 - 213
Morbus Fabry ist eine lysosomale Speichererkrankung, die durch eine Mutation im Gen für α-Galaktosidase A hervorgerufen und X-chromosomal vererbt wird. Es... 
Nephrology | Morbus Fabry | Metabolic Diseases | Fabry disease | Oncology | Angiology | Enzymersatztherapie | Urology | Transplant Surgery | Agalsidase beta | Medicine & Public Health | Enzyme replacement therapy | Agalsidase alfa | Alpha-galactosidase A | α-Galaktosidase A
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2008, Volume 93, Issue 2, pp. 112 - 128
Journal Article
Revista Romana de Medicina de Laborator, ISSN 1841-6624, 12/2011, Volume 19, Issue 4, pp. 367 - 372
Journal Article
Biochemical Journal, ISSN 0264-6021, 09/2007, Volume 406, Issue 2, pp. 285 - 295
Fabry disease is a lysosomal storage disorder caused by the deficiency of alpha-Gal A (alpha-galactosidase A) activity. In order to understand the molecular... 
Fabry disease | Endoplasmic reticulum-associated degradation (ERAD) | α-galactosidase A | Active-site-specific chaperone (ASSC) | Protein misfolding | 1-deoxygalactonojirimycin (DGJ) | BIOCHEMISTRY & MOLECULAR BIOLOGY | ATYPICAL VARIANT | LYSOSOMAL STORAGE | QUALITY-CONTROL | NATURAL-HISTORY | active-site-specific chaperone (ASSC) | 1-deoxy-galactonojirimycin (DGJ) | endoplasmic reticulum-associated degradation (ERAD) | CHAPERONE THERAPY | POINT MUTATIONS | GENE | protein misfolding | alpha-galactosidase A | REPLACEMENT THERAPY | ENDOPLASMIC-RETICULUM | PROTEINS | Protein Structure, Tertiary | alpha-Galactosidase - genetics | Fabry Disease - classification | Fabry Disease - genetics | Humans | Cells, Cultured | Enzyme Stability | Cercopithecus aethiops | Models, Molecular | alpha-Galactosidase - metabolism | Fabry Disease - enzymology | Mutation - genetics | Fabry Disease - pathology | Protein Transport | Gene Expression Regulation, Enzymologic | alpha-Galactosidase - chemistry | 1-Deoxynojirimycin - pharmacology | alpha-Galactosidase - isolation & purification | Animals | Cell Communication - drug effects | 1-Deoxynojirimycin - analogs & derivatives | Kinetics | Binding Sites | Hydrogen-Ion Concentration | DGJ, 1-deoxygalactonojirimycin | 4MU-α-Gal, 4MU α-D-galactopyranoside | GLA, α-Gal A gene | ERAD, endoplasmic reticulum-associated degradation | 4MU, 4-methylumbelliferyl | α-Gal A, α-galactosidase A | DMEM, Dulbecco's modified Eagle's medium | ASSC, active-site-specific chaperone | ER, endoplasmic reticulum | FCS, fetal calf serum
Journal Article
Applied Microbiology and Biotechnology, ISSN 0175-7598, 7/2015, Volume 99, Issue 14, pp. 5863 - 5874
Journal Article
Journal Article
New England Journal of Medicine, ISSN 0028-4793, 08/2016, Volume 375, Issue 6, pp. 545 - 555
Journal Article
Lancet, The, ISSN 0140-6736, 2008, Volume 372, Issue 9647, pp. 1427 - 1435
Summary Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in α-galactosidase A.... 
Internal Medicine | alpha-Galactosidase - genetics | alpha-Galactosidase - therapeutic use | Fabry Disease - epidemiology | Humans | Sex Factors | Fabry Disease - physiopathology | Female | Male | alpha-Galactosidase - metabolism | Fabry Disease - therapy | Fabry Disease - diagnosis | Care and treatment | Genetic aspects | Diagnosis | Fabry's disease | Risk factors
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Journal Article