|2.||Gaucher Disease (Gaucher's Disease)
|4.||Kidney Diseases (Kidney Disease)
|5.||Neuralgia (Stump Neuralgia)
|1.||Schiffmann, Raphael: 43 articles (11/2015 - 01/2002)|
|2.||Desnick, Robert J: 43 articles (05/2015 - 04/2002)|
|3.||Germain, Dominique P: 38 articles (12/2015 - 01/2002)|
|4.||Beck, Michael: 32 articles (03/2015 - 06/2002)|
|5.||Beck, M: 32 articles (11/2013 - 12/2001)|
|6.||Wanner, Christoph: 31 articles (12/2015 - 01/2003)|
|7.||Linthorst, Gabor E: 31 articles (05/2015 - 01/2003)|
|8.||Sakuraba, Hitoshi: 30 articles (07/2015 - 10/2002)|
|9.||Hollak, Carla E M: 27 articles (01/2016 - 08/2003)|
|10.||Warnock, David G: 26 articles (12/2015 - 03/2005)|
|1.||agalsidase betaFDA Link
01/01/2014 - "Early treatment of agalsidase Beta is related to a better outcome regarding stability and regression of signs and symptoms in Fabry disease. "
01/01/2005 - "These results suggest that treatment with agalsidase beta is safe and effective in Japanese patients with Fabry disease. "
01/01/2006 - "In sum, these clinical trials provide the evidence-based safety and efficacy of Fabrazyme replacement therapy for Fabry disease."
11/01/2010 - "Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry."
05/01/2015 - "This 10-year study documents the effectiveness of agalsidase beta (1 mg/kg/2 weeks) in patients with Fabry disease. "
11/01/2009 - "Heart rate variability, which is reduced in boys with Fabry disease, was statistically significantly improved with 6 months of agalsidase alfa treatment. "
05/01/2007 - "These results suggest that weekly infusions of agalsidase alfa at a dosage of 0.2 mg/kg may be beneficial in the subgroup of patients who have Fabry disease and whose kidney function continues to decline after 2 to 4 yr or more of standard EOW dosing."
10/01/2012 - "In conclusion, agalsidase alfa is an effective and well tolerated treatment option for use in patients with Fabry disease."
05/01/2007 - "This study was performed to determine whether adult male patients with Fabry disease who demonstrate a continuing decline in renal function despite 2 to 4 yr of conventionally dosed agalsidase alfa therapy (0.2 mg/kg every other week [EOW]) show an improved slope of decline with weekly administration using the same dosage. "
09/01/2006 - "Our purpose with this work was to evaluate safety and to explore efficacy of enzyme treatment with agalsidase alfa in pediatric patients with Fabry disease. "
06/01/2007 - "Gene therapy for Fabry disease, a deficiency in alpha-galactosidase A (alpha-gal A) activity, has the potential to provide a cure for the disorder with a single treatment. "
07/05/2001 - "Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease."
05/20/2015 - "Due to the importance and the difficulty still present in determining the biochemical diagnosis of Fabry disease (FD), the aim of this study was to establish and compare the biochemical and kinetic properties of alpha-galactosidase A (GLA) in dried blood spots (DBS), plasma and leukocyte samples of FD patients and healthy subjects to evaluate the possible use of these parameters as an auxiliary tool in the diagnosis of this disease. "
02/01/2015 - "The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies."
04/01/2013 - "The study was to explore potential mutations of alpha-galactosidase A (GLA) gene and their correlation with clinic manifestations in three Chinese pedigrees with Fabry disease. "
07/01/2012 - "Assessing the amount of globotriaosylceramide inclusions in renal peritubular capillaries by a semiquantitative approach is a standard and useful measure of therapeutic efficacy in Fabry disease, achievable by light microscopy analysis. "
12/01/2010 - "We sought to assess the prevalence of unrecognized Fabry disease in dialysis-dependent patients and the efficacy of serum globotriaosylceramide (GL3) screening. "
03/01/2005 - "The aim of this study was to determine whether globotriaosylceramide (Gb3) is a useful biomarker in Fabry disease. "
05/06/2015 - "Globotriaosylsphingosine (lyso-Gb3), a deacylated form of globotriaosylceramide (Gb3), has emerged as a marker of Fabry disease. "
01/01/2014 - "Globotriaosylceramide induces endothelial dysfunction in fabry disease."
|5.||Biological Markers (Surrogate Marker)IBA
01/01/2002 - "The results do not reveal measurable evidence for endothelial and leukocyte activation that could reliably serve as surrogate markers for routine monitoring of the efficacy of ERT in patients with Fabry disease. "
10/01/2013 - "The aim of this study was to extend our recent analyses to identify and evaluate new potential Gb3-related biomarkers in the plasma of untreated male Fabry disease patients using a mass spectrometry metabolomic approach. "
01/01/2013 - "The overall objective of this metabolomic study was to identify and characterize new potential plasma biomarkers in treated and untreated males and females affected with Fabry disease which might better reflect disease severity and progression. "
01/01/2012 - "The principal aim of this study was to evaluate the possibility of detecting other Fabry disease biomarkers structurally related to Gb(3). "
06/01/2015 - "Remarkably, due to the high heterogeneity of the Fabry phenotype, both diagnostic testing and treatment decisions are more challenging in females than in males; thus, reliable biomarkers for Fabry disease are needed, particularly for female patients. "
03/01/2007 - "Due to its high sensitivity and specificity, determination of the c-galactosidase A activity in leukocytes is the gold standard to confirm the diagnosis of Fabry disease in hemizygous moles. "
01/01/2013 - "Another biopsy confirmed the previous diagnosis but suggested Fabry's disease, later confirmed by electron microscopy, α-galactosidase A serum and leukocyte deficiency as well as genetic studies. "
09/01/2012 - "The purpose of this study was to ascertain whether skewed X-inactivation favoring the mutant α-galactosidase A allele exists in our cohort of female heterozygotes of Fabry disease. "
04/01/2012 - "Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution."
05/01/1972 - "Biochemical and electrophoretic studies of -galactosidase in normal man, in patients with Fabry's disease, and in Equidae."
02/10/2011 - "Therefore, this ICAM-1-targeting strategy may help improve the efficacy of therapeutic enzymes for Fabry disease."
03/01/2006 - "These studies further define the molecular heterogeneity of the alpha-Gal A mutations in classical Fabry disease, permit precise heterozygote detection and prenatal diagnosis, and provide insights into the structural alterations of the mutant enzymes that cause the classic phenotype."
11/01/2012 - "Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease."
01/01/2011 - "For Fabry disease, two enzymes were authorized at the same time resulting in two different drug registries being required by the European Medicines Agency (EMA) to monitor effectiveness and safety. "
01/01/2010 - "Since lysosomal enzymes are usually secreted and uptaken by neighbor cells, the different findings between MPS II and Fabry disease heterozygotes can also be due to different efficiency of cross-correction (higher in MPS II and lower in Fabry disease). "
|8.||Lysergic Acid Diethylamide (LSD)IBA
11/01/2014 - "Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study."
07/01/2003 - "Fabry disease (FD), the second most common type of lysosomal storage disease (LSD), is one of 41 disorders characterized by accumulation of substances normally degraded within lysosomes. "
01/01/2015 - "The study commenced on January 11, 2013; during the first 6 months, 43,701 specimens were screened, and 27 newborns with a confirmed diagnosis of an LSD genotype (8 with Pompe disease, 1 with Gaucher disease, 15 with Fabry disease, and 3 with MPS I) were identified. "
11/01/2014 - "Enzyme replacement therapy (ERT) is the dominant approach and is actually proposed in six LSD: Gaucher disease, Fabry disease, Pompe disease and mucopolysaccharidoisis (MPS) I (Hurler disease), II (Hunter disease) and VI (Maroteaux-Lamy disease). "
11/01/2014 - "The National Collaborative Study for Lysosomal Storage Disorders (NCS-LSD), was a longitudinal cohort study which collected prospective and retrospective clinical data, and patient-reported data from adults and children with a confirmed diagnosis of Gaucher disease, Fabry disease, mucopolysaccharidosis type I (MPS I), mucopolysaccharidosis type II (MPS II), Pompe disease and Niemann Pick disease type C (NPC) in the UK. "
|9.||Immunoglobulin G (IgG)IBA
01/01/2009 - "To explore whether anti-alpha GAL IgG interferes with therapeutic efficacy, retrospective analyses were conducted using data obtained from a total of 134 adult male and female patients with Fabry disease who were treated with agalsidase beta at 1mg/kg every 2 weeks for up to 5 years during placebo-controlled trials and the corresponding open-label extension studies. "
03/01/2012 - "The clinical impact of the development of IgG antibodies to ERT in patients with Fabry disease remains unclear, due to lack of data and to the marked heterogeneity of patients both in terms of disease manifestations and response to therapy. "
01/01/2009 - "Determination of the long-term impact of circulating anti-alpha GAL IgG antibodies on clinical outcomes will require continued monitoring, and serology testing is recommended as part of the routine care of Fabry disease patients during ERT."
03/01/2001 - "Of 15 patients, 8 (53%) developed IgG antibodies to r-halphaGalA; however, the antibodies were not neutralizing, as indicated by unchanged pharmacokinetic values for infusions 1 and 5. This study provides the basis for a phase 3 trial of enzyme-replacement therapy for Fabry disease."
11/01/2009 - "Enzyme therapy in Fabry disease: severe adverse events associated with anti-agalsidase cross-reactive IgG antibodies."
01/01/2009 - "One of the most potent inhibitors of alpha-gal A, 1-deoxygalactonojirimycin, has also been shown to be effective in enhancing residual alpha-gal A activity in cultured fibroblasts and lymphoblasts established from patients with Fabry disease caused by a variety of missense mutations. "
01/01/2014 - "Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and agalsidase alpha in cultured fibroblasts from patients with Fabry disease."
06/01/2013 - "First we developed a commercially available compound 1-deoxygalactonojirimycin (DGJ) for Fabry disease, and confirmed the above molecular phenomenon. "
03/01/2009 - "Preclinical efficacy and safety of 1-deoxygalactonojirimycin in mice for Fabry disease."
06/01/2008 - "Active-site-specific chaperone therapy for Fabry disease is a genotype-specific therapy using a competitive inhibitor, 1-deoxygalactonojirimycin (DGJ). "
|1.||Enzyme Replacement Therapy
01/01/2013 - "The Mainz Severity Score Index (MSSI) (Table 12), a scoring system for patients with Fabry disease has been proven to be representative in patients with 'classic' Fabry disease and may be useful for monitoring clinical improvement in patients receiving enzyme replacement therapy. "
02/15/2007 - "We report on a case of marked improvement of pulmonary signs and symptoms in a patient with Fabry disease following enzyme replacement therapy. "
04/01/2006 - "The MSSI score has been proven to be representative in patients with 'classic' Fabry disease and may be useful for monitoring clinical improvement in patients receiving enzyme replacement therapy."
09/01/2011 - "We conclude that the measures introduced in 2005 significantly improved the value of the information in the registry, which has contributed greatly to our understanding of patients' real-world experience with enzyme replacement therapy for Fabry disease."
12/01/2010 - "Enzyme replacement therapy seems beneficial in Fabry's disease with central nervous system involvement."
06/06/2001 - "Intravenous infusions of alpha-gal A are safe and have widespread therapeutic efficacy in Fabry disease."
01/01/2013 - "21 patients with cardiac-type Fabry disease (15 men and 6 women) as well as 15 patients with classic Fabry disease (4 men and 11 women) treated with biweekly intravenous infusions of agalsidase β (1 mg/kg) or agalsidase α (0.2 mg/kg) for at least 6 months. "
01/01/2002 - "The recently completed double-blind, placebo-controlled trials of intravenous infusions of (alpha-galactosidase A in patients with Fabry disease demonstrated the safety and efficacy of this treatment. "
12/06/2000 - "Our recently completed double-blind, placebo-controlled trial of intravenous infusions of alpha-galactosidase A in patients with Fabry disease demonstrated the safety and efficacy of this treatment. "
04/01/2004 - "Three male kidney transplant recipients with biochemically, genetically, and histologically confirmed Fabry disease and documented Fabry myocardiopathy received the rh-alpha-Gal A, agalsidase beta, 1 mg/kg of body weight every 2 weeks by intravenous infusion and were monitored biochemically, clinically, and electrocardiographically and echocardiographically for 18 months. "
|3.||Transplantation (Transplant Recipients)
03/01/2009 - "Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria."
04/01/2009 - "Clinical characteristics of transplant recipients in the Fabry Outcome Survey (FOS) were therefore examined in patients with Fabry disease with or without ERT. "
01/27/2009 - "Postkidney transplantation outcomes among patients with Fabry disease remain controversial. "
12/01/2008 - "Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients."
03/13/2001 - "We previously have demonstrated long-term alpha-gal A enzyme correction and lipid reduction mediated by therapeutic ex vivo transduction and transplantation of hematopoietic cells in a mouse model of Fabry disease. "
12/01/2010 - "[Efficacy of replacement enzyme therapy on central nervous system manifestations in Fabry's disease]."
01/01/2010 - "Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease."
07/01/2014 - "[The switch of enzyme therapy in Fabry disease]."
05/01/2010 - "[Enzyme therapy in Fabry disease: when scarcity of one enzyme illustrates the vulnerability of biotech]."
12/12/2009 - "Enzyme therapy for Fabry's disease: registered for success?"
|5.||Bone Marrow Transplantation (Transplantation, Bone Marrow)
05/25/1999 - "Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice."
05/01/2011 - "Minimum requirement of donor cells to reduce the glycolipid storage following bone marrow transplantation in a murine model of Fabry disease."
02/27/2001 - "Although enzyme replacement therapy and bone marrow transplantation have shown promise in the murine analog of Fabry disease, gene therapy holds a strong potential for treating this disease in humans. "