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Revista Romana de Medicina de Laborator, ISSN 1841-6624, 12/2011, Volume 19, Issue 4, pp. 367 - 372
Journal Article
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
Neurobiology of disease, ISSN 0969-9961, 2/2018, Volume 110, pp. 68 - 81
The aberrant accumulation of alpha-synuclein (α-syn) is believed to contribute to the onset and pathogenesis of Parkinson’s disease (PD). The... 
globotriaosylceramide | Alpha-Galactosidase A | alpha-synuclein | lysosome | Parkinson’s disease | glycosphingolipids
Journal Article
CHEMICAL COMMUNICATIONS, ISSN 1359-7345, 2016, Volume 52, Issue 32, pp. 5497 - 5515
Lysosomal storage disorders (LSDs) are often caused by mutations that destabilize native folding and impair the trafficking of enzymes, leading to premature... 
IMINOSUGAR C-GLYCOSIDES | GM GANGLIOSIDOSIS | SUBSTRATE REDUCTION | CHEMICAL CHAPERONE | HUMAN ALPHA-GALACTOSIDASE | BIOLOGICAL EVALUATION | ACID-BETA-GLUCOSIDASE | GLUCOCEREBROSIDASE INHIBITORS | MOLECULAR-BASIS | CHEMISTRY, MULTIDISCIPLINARY | NEURODEGENERATIVE DISEASES
Journal Article
Tetrahedron, ISSN 0040-4020, 03/2018, Volume 74, Issue 12, pp. 1307 - 1312
The iminosugar 2,5-dideoxy-2,5-imino- -altritol (DIA, ) is a powerful competitive inhibitor of α-galactosidase A and has shown much promise as a... 
Reductive amination | Fabry disease | Iminosugar | Carbohydrate | Vasella reaction | THERAPY | PYRROLIDINES | ISOMERIZATION | CHEMISTRY, ORGANIC | ALPHA-GALACTOSIDASE
Journal Article
Gazzetta Medica Italiana Archivio per le Scienze Mediche, ISSN 0393-3660, 09/2018, Volume 177, Issue 9, pp. 501 - 503
Journal Article
Clinical Pharmacology & Therapeutics, ISSN 0009-9236, 05/2019, Volume 105, Issue 5, pp. 1224 - 1233
Long‐term effects of migalastat therapy in clinical practice are currently unknown. We evaluated migalastat efficacy and biomarker changes in a prospective,... 
PHARMACOKINETICS | SAFETY | RECOMMENDATIONS | REPLACEMENT THERAPY | PHARMACOLOGY & PHARMACY | MUTATIONS | PHARMACOLOGICAL CHAPERONE | NEPHROPATHY | ALPHA-GALACTOSIDASE | PROGRESSION | MANIFESTATIONS | Research
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
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 05/2014, Volume 37, Issue 3, pp. 341 - 352
Objective Current available evidence on long‐term effectiveness of enzyme replacement therapy (ERT) for Fabry disease is limited. More insight is needed... 
ORGAN INVOLVEMENT | CLINICAL-MANIFESTATIONS | CARDIOMYOPATHY | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | RENAL-FUNCTION | HISTORY DATA | FOLLOW-UP | AGALSIDASE-BETA THERAPY | OUTCOME SURVEY | ALPHA-GALACTOSIDASE-A | REGISTRY
Journal Article
Tetrahedron: Asymmetry, ISSN 0957-4166, 2009, Volume 20, Issue 6, pp. 645 - 651
George Fleet was a pioneer in establishing the structures of naturally occurring iminosugars and in developing novel methods for the chemical synthesis of... 
STORAGE | MIGLUSTAT | IN-VITRO INHIBITION | GLYCOSIDASE INHIBITION | LYSOSOMAL ALPHA-GALACTOSIDASE | CHEMISTRY, PHYSICAL | TAY-SACHS | SUBSTRATE REDUCTION THERAPY | N-BUTYLDEOXYNOJIRIMYCIN | GAUCHER-DISEASE | FABRY LYMPHOBLASTS
Journal Article
LANCET, ISSN 0140-6736, 10/2008, Volume 372, Issue 9647, pp. 1427 - 1435
Journal Article
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