fabry disease

Summary

Summary: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.

Top Publications

  1. Auray Blais C, Boutin M, Gagnon R, Dupont F, Lavoie P, Clarke J. Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics. Anal Chem. 2012;84:2745-53 pubmed publisher
    b>Fabry disease is a lysosomal storage disorder caused by deficiency of ?-galactosidase A, resulting in glycosphingolipid accumulation in organs and tissues, including plasma and urine...
  2. Sanchez Niño M, Sanz A, Carrasco S, Saleem M, Mathieson P, Valdivielso J, et al. Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy. Nephrol Dial Transplant. 2011;26:1797-802 pubmed publisher
    ..b>Fabry disease is an X-linked lysosomal glycosphingolipid storage disorder resulting from a deficient activity of ?-..
  3. Togawa T, Kodama T, Suzuki T, Sugawara K, Tsukimura T, Ohashi T, et al. Plasma globotriaosylsphingosine as a biomarker of Fabry disease. Mol Genet Metab. 2010;100:257-61 pubmed publisher
    b>Fabry disease is an X-linked genetic disorder caused by a deficiency of alpha-galactosidase A (GLA) activity...
  4. Vojtová L, Zima T, Tesar V, Michalová J, Prikryl P, Dostalova G, et al. Study of urinary proteomes in Anderson-Fabry disease. Ren Fail. 2010;32:1202-9 pubmed publisher
    Anderson-Fabry disease (AFD) is an X-linked genetic disorder with deficient ?-galactosidase A activity...
  5. Colomba P, Nucera A, Zizzo C, Albeggiani G, Francofonte D, Iemolo F, et al. Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease. Clin Biochem. 2012;45:839-41 pubmed publisher
    ..In our work, we analyze about one thousand samples per year from patients suspected of having Fabry disease (FD)...
  6. Benjamin E, Khanna R, Schilling A, Flanagan J, Pellegrino L, Brignol N, et al. Co-administration with the pharmacological chaperone AT1001 increases recombinant human ?-galactosidase A tissue uptake and improves substrate reduction in Fabry mice. Mol Ther. 2012;20:717-26 pubmed publisher
    b>Fabry disease is an X-linked lysosomal storage disorder (LSD) caused by mutations in the gene (GLA) that encodes the lysosomal hydrolase ?-galactosidase A (?-Gal A), and is characterized by pathological accumulation of the substrate, ..
  7. Shiozuka C, Taguchi A, Matsuda J, Noguchi Y, Kunieda T, Uchio Yamada K, et al. Increased globotriaosylceramide levels in a transgenic mouse expressing human alpha1,4-galactosyltransferase and a mouse model for treating Fabry disease. J Biochem. 2011;149:161-70 pubmed publisher
    b>Fabry disease is a lysosomal storage disorder caused by an ?-galactosidase A (?-Gal A) deficiency and resulting in the accumulation of glycosphingolipids, predominantly globotriaosylceramide (Gb3)...
  8. Terryn W, Cochat P, Froissart R, Ortiz A, Pirson Y, Poppe B, et al. Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice. Nephrol Dial Transplant. 2013;28:505-17 pubmed publisher
    b>Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism resulting in the accumulation of glycolipids including globotriaosylceramide in cells of various tissues resulting in end-organ manifestations...
  9. Kikumoto Y, Kai Y, Morinaga H, Iga Murahashi M, Matsuyama M, Sasaki T, et al. Fabry disease exhibiting recurrent stroke and persistent inflammation. Intern Med. 2010;49:2247-52 pubmed
    We describe two cases of Fabry disease in non-blood-related Japanese men, manifesting recurrent stroke even after the start of enzyme replacement therapy...
  10. Germain D, Giugliani R, Hughes D, Mehta A, Nicholls K, Barisoni L, et al. Safety and pharmacodynamic effects of a pharmacological chaperone on ?-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies. Orphanet J Rare Dis. 2012;7:91 pubmed publisher
    b>Fabry disease (FD) is a genetic disorder resulting from deficiency of the lysosomal enzyme ?-galactosidase A (?-Gal A), which leads to globotriaosylceramide (GL-3) accumulation in multiple tissues...

Detail Information

Publications93

  1. Auray Blais C, Boutin M, Gagnon R, Dupont F, Lavoie P, Clarke J. Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics. Anal Chem. 2012;84:2745-53 pubmed publisher
    b>Fabry disease is a lysosomal storage disorder caused by deficiency of ?-galactosidase A, resulting in glycosphingolipid accumulation in organs and tissues, including plasma and urine...
  2. Sanchez Niño M, Sanz A, Carrasco S, Saleem M, Mathieson P, Valdivielso J, et al. Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy. Nephrol Dial Transplant. 2011;26:1797-802 pubmed publisher
    ..b>Fabry disease is an X-linked lysosomal glycosphingolipid storage disorder resulting from a deficient activity of ?-..
  3. Togawa T, Kodama T, Suzuki T, Sugawara K, Tsukimura T, Ohashi T, et al. Plasma globotriaosylsphingosine as a biomarker of Fabry disease. Mol Genet Metab. 2010;100:257-61 pubmed publisher
    b>Fabry disease is an X-linked genetic disorder caused by a deficiency of alpha-galactosidase A (GLA) activity...
  4. Vojtová L, Zima T, Tesar V, Michalová J, Prikryl P, Dostalova G, et al. Study of urinary proteomes in Anderson-Fabry disease. Ren Fail. 2010;32:1202-9 pubmed publisher
    Anderson-Fabry disease (AFD) is an X-linked genetic disorder with deficient ?-galactosidase A activity...
  5. Colomba P, Nucera A, Zizzo C, Albeggiani G, Francofonte D, Iemolo F, et al. Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease. Clin Biochem. 2012;45:839-41 pubmed publisher
    ..In our work, we analyze about one thousand samples per year from patients suspected of having Fabry disease (FD)...
  6. Benjamin E, Khanna R, Schilling A, Flanagan J, Pellegrino L, Brignol N, et al. Co-administration with the pharmacological chaperone AT1001 increases recombinant human ?-galactosidase A tissue uptake and improves substrate reduction in Fabry mice. Mol Ther. 2012;20:717-26 pubmed publisher
    b>Fabry disease is an X-linked lysosomal storage disorder (LSD) caused by mutations in the gene (GLA) that encodes the lysosomal hydrolase ?-galactosidase A (?-Gal A), and is characterized by pathological accumulation of the substrate, ..
  7. Shiozuka C, Taguchi A, Matsuda J, Noguchi Y, Kunieda T, Uchio Yamada K, et al. Increased globotriaosylceramide levels in a transgenic mouse expressing human alpha1,4-galactosyltransferase and a mouse model for treating Fabry disease. J Biochem. 2011;149:161-70 pubmed publisher
    b>Fabry disease is a lysosomal storage disorder caused by an ?-galactosidase A (?-Gal A) deficiency and resulting in the accumulation of glycosphingolipids, predominantly globotriaosylceramide (Gb3)...
  8. Terryn W, Cochat P, Froissart R, Ortiz A, Pirson Y, Poppe B, et al. Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice. Nephrol Dial Transplant. 2013;28:505-17 pubmed publisher
    b>Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism resulting in the accumulation of glycolipids including globotriaosylceramide in cells of various tissues resulting in end-organ manifestations...
  9. Kikumoto Y, Kai Y, Morinaga H, Iga Murahashi M, Matsuyama M, Sasaki T, et al. Fabry disease exhibiting recurrent stroke and persistent inflammation. Intern Med. 2010;49:2247-52 pubmed
    We describe two cases of Fabry disease in non-blood-related Japanese men, manifesting recurrent stroke even after the start of enzyme replacement therapy...
  10. Germain D, Giugliani R, Hughes D, Mehta A, Nicholls K, Barisoni L, et al. Safety and pharmacodynamic effects of a pharmacological chaperone on ?-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies. Orphanet J Rare Dis. 2012;7:91 pubmed publisher
    b>Fabry disease (FD) is a genetic disorder resulting from deficiency of the lysosomal enzyme ?-galactosidase A (?-Gal A), which leads to globotriaosylceramide (GL-3) accumulation in multiple tissues...
  11. De Francesco P, Mucci J, Ceci R, Fossati C, Rozenfeld P. Higher apoptotic state in Fabry disease peripheral blood mononuclear cells.: effect of globotriaosylceramide. Mol Genet Metab. 2011;104:319-24 pubmed publisher
    b>Fabry disease is an X-linked lysosomal storage disorder (LSD) due to deficiency of the enzyme ?-galactosidase A, resulting in intracellular deposition of globotriaosylceramide (Gb3)...
  12. Allen L, Cosgrave E, Kersey J, Ramaswami U. Fabry disease in children: correlation between ocular manifestations, genotype and systemic clinical severity. Br J Ophthalmol. 2010;94:1602-5 pubmed publisher
    b>Fabry disease is an X linked lysosomal disorder associated with severe multiorgan failure and premature death...
  13. Chevrier M, Brakch N, Céline L, Genty D, Ramdani Y, Moll S, et al. Autophagosome maturation is impaired in Fabry disease. Autophagy. 2010;6:589-99 pubmed publisher
    b>Fabry disease is a lysosomal storage disorder (LSD) caused by a deficiency in ?-galactosidase A. The disease is characterized by severe major organ involvement, but the pathologic mechanisms responsible have not been elucidated...
  14. Ferri L, Guido C, La Marca G, Malvagia S, Cavicchi C, Fiumara A, et al. Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene. Clin Genet. 2012;81:224-33 pubmed publisher
    b>Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene...
  15. Aerts J, Kallemeijn W, Wegdam W, Joao Ferraz M, van Breemen M, Dekker N, et al. Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. J Inherit Metab Dis. 2011;34:605-19 pubmed publisher
    ..These are illustrated by reviewing the discovery and use of biomarkers for Gaucher disease and Fabry disease. In addition, recently developed chemical tools allowing specific visualization of enzymatically active ..
  16. Segal P, Kohn Y, Pollak Y, Altarescu G, Galili Weisstub E, Raas Rothschild A. Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study. J Inherit Metab Dis. 2010;33:429-36 pubmed publisher
    Anderson-Fabry disease (AFD) is an X-linked inherited lysosomal storage disorder disease caused by a deficiency in the activity of the alpha-galactosidase enzyme...
  17. Andreotti G, Citro V, De Crescenzo A, Orlando P, Cammisa M, Correra A, et al. Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests. Orphanet J Rare Dis. 2011;6:66 pubmed publisher
    b>Fabry disease is a rare disorder caused by a large variety of mutations in the gene encoding lysosomal alpha-galactosidase. Many of these mutations are unique to individual families...
  18. Uceyler N, He L, Schönfeld D, Kahn A, Reiners K, Hilz M, et al. Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy. J Peripher Nerv Syst. 2011;16:304-14 pubmed publisher
    b>Fabry disease (FD) is an X-linked lysosomal storage disorder which may lead to impaired peripheral nerve function, mostly affecting small nerve fibers, and to neuropathic pain...
  19. Barisoni L, Jennette J, Colvin R, Sitaraman S, Bragat A, Castelli J, et al. Novel quantitative method to evaluate globotriaosylceramide inclusions in renal peritubular capillaries by virtual microscopy in patients with fabry disease. Arch Pathol Lab Med. 2012;136:816-24 pubmed publisher
    ..capillaries by a semiquantitative approach is a standard and useful measure of therapeutic efficacy in Fabry disease, achievable by light microscopy analysis...
  20. Weidemann F, Sommer C, Duning T, Lanzl I, Möhrenschlager M, Naleschinski D, et al. Department-related tasks and organ-targeted therapy in Fabry disease: an interdisciplinary challenge. Am J Med. 2010;123:658.e1-658.e10 pubmed publisher
    b>Fabry disease is a rare X-linked storage disorder leading to an accumulation of globotriaosylceramides in all cells carrying lysosomes...
  21. Auray Blais C, Ntwari A, Clarke J, Warnock D, Oliveira J, Young S, et al. How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?. Clin Chim Acta. 2010;411:1906-14 pubmed publisher
    b>Fabry disease is characterized by accumulation of glycosphingolipids, such as globotriaosylceramide (Gb(3)), in many tissues and body fluids...
  22. Celtikci B, Topcu M, Ozkara H. Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man. Clin Biochem. 2011;44:809-12 pubmed publisher
    To evaluate the nature of the molecular lesions in the alpha-galactosidase A gene of two patients having Fabry disease. Enzyme analyses were done using 4-methylumbellyferyl alpha-galactoside as substrate...
  23. van Breemen M, Rombach S, Dekker N, Poorthuis B, Linthorst G, Zwinderman A, et al. Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. Biochim Biophys Acta. 2011;1812:70-6 pubmed publisher
    b>Fabry disease is treated by two-weekly infusions with ?-galactosidase A, which is deficient in this X-linked globotriaosylceramide (Gb3) storage disorder...
  24. Biegstraaten M, van Schaik I, Wieling W, Wijburg F, Hollak C. Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests. BMC Neurol. 2010;10:38 pubmed publisher
    ..in other diseases, such as orthostatic intolerance and male sexual dysfunction, are infrequently reported in Fabry disease. The aim of our study was to investigate autonomic symptoms and cardiovascular autonomic function in a large ..
  25. Rombach S, Dekker N, Bouwman M, Linthorst G, Zwinderman A, Wijburg F, et al. Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease. Biochim Biophys Acta. 2010;1802:741-8 pubmed publisher
    b>Fabry disease is an X-linked lysosomal storage disorder due to deficiency of alpha-Galactosidase A, causing accumulation of globotriaosylceramide and elevated plasma globotriaosylsphingosine (lysoGb3)...
  26. Machann W, Breunig F, Weidemann F, Sandstede J, Hahn D, Köstler H, et al. Cardiac energy metabolism is disturbed in Fabry disease and improves with enzyme replacement therapy using recombinant human galactosidase A. Eur J Heart Fail. 2011;13:278-83 pubmed publisher
    ..Twenty-three patients (41 ± 9 years; 10 females) with genetically proven Fabry disease were examined with a 1.5 T Scanner, and compared with an age-matched healthy control group...
  27. Pereira E, do Monte S, do Nascimento F, de Castro J, Sousa J, Filho H, et al. Lysosome-associated protein 1 (LAMP-1) and lysosome-associated protein 2 (LAMP-2) in a larger family carrier of Fabry disease. Gene. 2014;536:118-22 pubmed publisher
    ..LAMP) 1 and 2 and responses to enzyme replacement therapy (ERT) in the members of a single family with Fabry disease (FD)...
  28. Niemann M, Breunig F, Beer M, Herrmann S, Strotmann J, Hu K, et al. The right ventricle in Fabry disease: natural history and impact of enzyme replacement therapy. Heart. 2010;96:1915-9 pubmed publisher
    Storage of globotriaosylceramides is present in the left and right ventricles of patients with Fabry disease. Improvement of left ventricular morphology and function during enzyme replacement therapy (ERT) has previously been reported...
  29. Tomasic I, Metcalf M, Guce A, Clark N, Garman S. Interconversion of the specificities of human lysosomal enzymes associated with Fabry and Schindler diseases. J Biol Chem. 2010;285:21560-6 pubmed publisher
    ..The designed enzymes might be useful as non-immunogenic alternatives in enzyme replacement therapy for treatment of lysosomal storage disorders such as Fabry disease.
  30. Marchesoni C, Roa N, Pardal A, Neumann P, Cáceres G, Martinez P, et al. Misdiagnosis in Fabry disease. J Pediatr. 2010;156:828-31 pubmed publisher
    To evaluate the most frequent diagnostic errors in patients with Fabry disease and the types of specialists most often consulted before diagnosis...
  31. Mehta A, West M, Pintos Morell G, Reisin R, Nicholls K, Figuera L, et al. Therapeutic goals in the treatment of Fabry disease. Genet Med. 2010;12:713-20 pubmed publisher
    b>Fabry disease is a progressive multiorgan, multisystem disorder that is caused by a deficiency in the lysosomal enzyme ?-galactosidase A...
  32. Siekierska A, De Baets G, Reumers J, Gallardo R, Rudyak S, Broersen K, et al. ?-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants. J Biol Chem. 2012;287:28386-97 pubmed publisher
    b>Fabry disease is a lysosomal storage disorder caused by loss of ?-galactosidase function. More than 500 Fabry disease mutants have been identified, the majority of which are structurally destabilized...
  33. Marshall J, Ashe K, Bangari D, McEachern K, Chuang W, Pacheco J, et al. Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease. PLoS ONE. 2010;5:e15033 pubmed publisher
    b>Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency in the activity of the lysosomal hydrolase ?-galactosidase A (?-gal)...
  34. Paschke E, Fauler G, Winkler H, Schlagenhauf A, Plecko B, Erwa W, et al. Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study. Am J Kidney Dis. 2011;57:673-81 pubmed publisher
    b>Fabry disease is a treatable X-linked lysosomal storage disorder caused by alterations in the structural gene (GLA) of ?-galactosidase A (AGAL), manifesting with cardiovascular and/or kidney disease and decreased life span...
  35. Mechtler T, Stary S, Metz T, De Jesus V, Greber Platzer S, Pollak A, et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet. 2012;379:335-41 pubmed publisher
  36. Toyooka K. Fabry disease. Curr Opin Neurol. 2011;24:463-8 pubmed publisher
    This review discusses the literature on Fabry disease mainly in the domain of neurology with special attention to recent advancement.
  37. Cigna D, D Anna C, Zizzo C, Francofonte D, Sorrentino I, Colomba P, et al. Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings. Mol Biosyst. 2013;9:1162-8 pubmed publisher
    b>Fabry disease (FD) is an X-linked progressive multisystem disease due to mutations in the gene encoding the lysosomal enzyme ?-galactosidase A (?-GalA)...
  38. Solis M, Pascual B, Boscá M, Ramos V, Carda C, Monteagudo C, et al. New mutation in female patient with renal variant of Fabry disease and HIV. J Nephrol. 2010;23:231-3 pubmed
    We describe the case of a 27-year-old woman with a family history of Anderson-Fabry disease (AFD). Urinary sediment presented microhematuria and 0.9 g/24 hours proteinuria...
  39. Brouns R, Thijs V, Eyskens F, Van den Broeck M, Belachew S, Van Broeckhoven C, et al. Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease. Stroke. 2010;41:863-8 pubmed publisher
    Data on the prevalence of Fabry disease in patients with central nervous system pathology are limited and controversial...
  40. Elliott P, Baker R, Pasquale F, Quarta G, Ebrahim H, Mehta A, et al. Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey. Heart. 2011;97:1957-60 pubmed publisher
    The prevalence of Anderson-Fabry disease (AFD) in patients presenting with unexplained left ventricular hypertrophy (LVH) is controversial...
  41. Wang C, Wang Y, Zhu F, Xiong J. A missense mutation of the ?-galactosidase A gene in a Chinese family of Fabry disease with renal failure. Kidney Blood Press Res. 2013;37:221-8 pubmed publisher
    b>Fabry disease (FD) is a rare disease due to an X-linked recessive inborn error of glycosphingolipid metabolism resulting from the mutations of the ?-galactosidase A (?-gal A) gene...
  42. Inoue T, Hattori K, Ihara K, Ishii A, Nakamura K, Hirose S. Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study. J Hum Genet. 2013;58:548-52 pubmed publisher
    b>Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of ?-galactosidase A (GLA) activity. Enzyme replacement therapy (ERT) for FD is available, and newborn mass screening for FD is being implemented...
  43. Sado D, White S, Piechnik S, Banypersad S, Treibel T, Captur G, et al. Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping. Circ Cardiovasc Imaging. 2013;6:392-8 pubmed publisher
    Anderson-Fabry disease (AFD) is a rare but underdiagnosed intracellular lipid disorder that can cause left ventricular hypertrophy (LVH). Lipid is known to shorten the magnetic resonance imaging parameter T1...
  44. Maalouf K, Jia J, Rizk S, Brogden G, Keiser M, Das A, et al. A modified lipid composition in Fabry disease leads to an intracellular block of the detergent-resistant membrane-associated dipeptidyl peptidase IV. J Inherit Metab Dis. 2010;33:445-9 pubmed publisher
    b>Fabry disease is an X-linked lysosomal storage disorder that leads to abnormal accumulation of glycosphingolipids due to a deficiency of alpha-galactosidase A (AGAL)...
  45. Keating G. Agalsidase alfa: a review of its use in the management of Fabry disease. BioDrugs. 2012;26:335-54 pubmed publisher
    ..2?mg/kg every other week is indicated for the long-term treatment of patients with confirmed Fabry disease. This article reviews the efficacy and tolerability of agalsidase alfa in patients with Fabry disease, as well ..
  46. Pisani A, Visciano B, Roux G, Sabbatini M, Porto C, Parenti G, et al. Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature. Mol Genet Metab. 2012;107:267-75 pubmed publisher
    Anderson-Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency of the hydrolytic enzyme alpha galactosidase A, with consequent accumulation of globotrioasoyl ceramide in cells and tissues of the body, ..
  47. Lidove O, West M, Pintos Morell G, Reisin R, Nicholls K, Figuera L, et al. Effects of enzyme replacement therapy in Fabry disease--a comprehensive review of the medical literature. Genet Med. 2010;12:668-79 pubmed publisher
    Enzyme replacement therapy with ?-galactosidase A has been used to treat Fabry disease since 2001. This article reviews the published evidence for clinical efficacy of the two available enzyme preparations...
  48. Torralba Cabeza M, Olivera S, Hughes D, Pastores G, Mateo R, Pérez Calvo J. Cystatin C and NT-proBNP as prognostic biomarkers in Fabry disease. Mol Genet Metab. 2011;104:301-7 pubmed publisher
    b>Fabry disease (FD) is a lysosomal storage disorder caused by mutations in the ?-galactosidase A gene...
  49. Caudron E, Germain D, Prognon P. [Fabry disease: enzymatic screening using dried blood spots on filter paper]. Rev Med Interne. 2010;31 Suppl 2:S263-9 pubmed publisher
    b>Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, which leads to a deficient activity of ?-galactosidase A...
  50. Valbuena C, Oliveira J, Carneiro F, Relvas S, Ganhão M, Sá Miranda M, et al. Kidney histologic alterations in ?-Galactosidase-deficient mice. Virchows Arch. 2011;458:477-86 pubmed publisher
    b>Fabry disease is a rare X-linked disorder caused by mutations in the ?-galactosidase gene (GLA), the resultant deficiency of lysosomal ?-galactosidase enzyme activity leading to systemic accumulation of globotriaosylceramide and other ..
  51. Watanabe T, Hanawa H, Suzuki T, Jiao S, Yoshida K, Ogura M, et al. A mutant mRNA expression in an endomyocardial biopsy sample obtained from a patient with a cardiac variant of Fabry disease caused by a novel acceptor splice site mutation in the invariant AG of intron 5 of the ?-galactosidase A gene. Intern Med. 2013;52:777-80 pubmed
    ..Subsequently, the patient was diagnosed with Fabry disease (FD), which was suspected based on the results of an endomyocardial biopsy and diagnosed following ..
  52. Giugliani R, Waldek S, Germain D, Nicholls K, Bichet D, Simosky J, et al. A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects. Mol Genet Metab. 2013;109:86-92 pubmed publisher
    b>Fabry disease (FD) is a genetic disorder resulting from deficiency of the lysosomal enzyme ?-galactosidase A (?-Gal A) which leads to globotriaosylceramide (GL-3) accumulation in multiple tissues...
  53. Young Gqamana B, Brignol N, Chang H, Khanna R, Soska R, Fuller M, et al. Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients. PLoS ONE. 2013;8:e57631 pubmed publisher
    b>Fabry disease (FD) results from mutations in the gene (GLA) that encodes the lysosomal enzyme ?-galactosidase A (?-Gal A), and involves pathological accumulation of globotriaosylceramide (GL-3) and globotriaosylsphingosine (lyso-Gb3)...
  54. Boutin M, Gagnon R, Lavoie P, Auray Blais C. LC-MS/MS analysis of plasma lyso-Gb3 in Fabry disease. Clin Chim Acta. 2012;414:273-80 pubmed publisher
    b>Fabry disease is a complex, multisystemic and clinically heterogeneous disease, with elevated excretion of globotriaosylceramide (Gb(3)) and globotriaosylsphingosine (lyso-Gb(3)) accumulating in biological fluids caused by deficiency of ..
  55. Hughes D, Malmenäs M, Deegan P, Elliott P, Ginsberg L, Hajioff D, et al. Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease. J Med Genet. 2012;49:212-20 pubmed publisher
    Anderson-Fabry disease (AFD) is a disorder of glycosphingolipid metabolism resulting from deficiency of ?-galactosidase A and accumulation of globotriaosylceramide...
  56. Rombach S, Baas M, ten Berge I, Krediet R, Bemelman F, Hollak C. The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patients with Fabry disease. Nephrol Dial Transplant. 2010;25:2549-56 pubmed publisher
    Renal disease is one of the major complications in Fabry disease, an X-linked lysosomal storage disease due to deficiency of the enzyme alpha-galactosidase A...
  57. Thompson R, Chow K, Khan A, Chan A, Shanks M, Paterson I, et al. T? mapping with cardiovascular MRI is highly sensitive for Fabry disease independent of hypertrophy and sex. Circ Cardiovasc Imaging. 2013;6:637-45 pubmed publisher
    b>Fabry disease (FD) is an X-linked disorder of lysosomal metabolism affecting multiple organs with cardiac disease being the leading cause of death. Current imaging evaluations of the heart are suboptimal...
  58. Guce A, Clark N, Rogich J, Garman S. The molecular basis of pharmacological chaperoning in human ?-galactosidase. Chem Biol. 2011;18:1521-6 pubmed publisher
    b>Fabry disease patients show a deficiency in the activity of the lysosomal enzyme ?-galactosidase (?-GAL or ?-Gal A)...
  59. Togawa T, Kawashima I, Kodama T, Tsukimura T, Suzuki T, Fukushige T, et al. Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease. Biochem Biophys Res Commun. 2010;399:716-20 pubmed publisher
    b>Fabry disease is a genetic disease caused by a deficiency of alpha-galactosidase A (GLA), which leads to systemic accumulation of glycolipids, predominantly globotriaosylceramide (Gb3)...
  60. Tøndel C, Bostad L, Larsen K, Hirth A, Vikse B, Houge G, et al. Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol. 2013;24:137-48 pubmed publisher
    The effect of early-onset enzyme replacement therapy on renal morphologic features in Fabry disease is largely unknown...
  61. Burlina A, Sims K, Politei J, Bennett G, Baron R, Sommer C, et al. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. BMC Neurol. 2011;11:61 pubmed publisher
    b>Fabry disease is an inherited metabolic disorder characterized by progressive lysosomal accumulation of lipids in a variety of cell types, including neural cells...
  62. Dobrovolny R, Nazarenko I, Kim J, Doheny D, Desnick R. Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel ?-galactosidase A (GLA) deletions causing Fabry disease. Hum Mutat. 2011;32:688-95 pubmed publisher
    ..detecting large (>50?bp) deletions/duplications in the X-linked ?-galactosidase A (GLA) gene, which cause Fabry disease. Briefly, multiplex PCR mixtures were designed to amplify each GLA exon and an unrelated internal control exon ..
  63. Marchesan D, Cox T, Deegan P. Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease. J Inherit Metab Dis. 2012;35:1107-17 pubmed publisher
    ..has stimulated development of targeted protein replacement for other lysosomal disorders, including Anderson-Fabry disease, which causes fatal cardiac, cerebrovascular and renal injury: deficiency of lysosomal ?-Galactosidase A ..
  64. Togawa T, Tsukimura T, Kodama T, Tanaka T, Kawashima I, Saito S, et al. Fabry disease: biochemical, pathological and structural studies of the ?-galactosidase A with E66Q amino acid substitution. Mol Genet Metab. 2012;105:615-20 pubmed publisher
    ..A (GLA) activity have been identified at an unexpectedly high frequency on Japanese and Korean screening for Fabry disease involving dry blood spots and plasma/serum samples...
  65. Watt T, Burlina A, Cazzorla C, Schönfeld D, Banikazemi M, Hopkin R, et al. Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry. Genet Med. 2010;12:703-12 pubmed publisher
    To evaluate the effect of agalsidase beta on longitudinal health-related quality of life in patients with Fabry disease.
  66. Deegan P. Fabry disease, enzyme replacement therapy and the significance of antibody responses. J Inherit Metab Dis. 2012;35:227-43 pubmed publisher
    b>Fabry disease is an X-linked disorder caused by a deficiency of ?-galactosidase A. This leads to a progressive accumulation of globotriaosylceramide in tissues throughout the body...
  67. Prabakaran T, Nielsen R, Larsen J, Sørensen S, Feldt Rasmussen U, Saleem M, et al. Receptor-mediated endocytosis of ?-galactosidase A in human podocytes in Fabry disease. PLoS ONE. 2011;6:e25065 pubmed publisher
    ..In Fabry disease, podocyte injury is caused by the intracellular accumulation of globotriaosylceramide...
  68. Ramaswami U, Parini R, Pintos Morell G, Kalkum G, Kampmann C, Beck M. Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey. Clin Genet. 2012;81:485-90 pubmed publisher
    The Fabry Outcome Survey (FOS) was established to extend the knowledge of the natural history of Fabry disease and to assess the effects of enzyme replacement therapy (ERT) with agalsidase alfa...
  69. Germain D. Fabry disease. Orphanet J Rare Dis. 2010;5:30 pubmed publisher
    b>Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal ?-galactosidase A activity...
  70. Ruiz de Garibay A, Solinís M, Rodríguez Gascón A. Gene therapy for fabry disease: a review of the literature. BioDrugs. 2013;27:237-46 pubmed publisher
    b>Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, ?-galactosidase A...
  71. Wu X, Katz E, Della Valle M, Mascioli K, Flanagan J, Castelli J, et al. A pharmacogenetic approach to identify mutant forms of ?-galactosidase A that respond to a pharmacological chaperone for Fabry disease. Hum Mutat. 2011;32:965-77 pubmed publisher
    b>Fabry disease is caused by mutations in the gene (GLA) that encodes ?-galactosidase A (?-Gal A)...
  72. Saito S, Ohno K, Sese J, Sugawara K, Sakuraba H. Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information. J Hum Genet. 2010;55:175-8 pubmed publisher
    b>Fabry disease is a genetic disorder caused by a deficiency of alpha-galactosidase, exhibiting a wide clinical spectrum, from the early-onset severe 'classic' form to the late-onset mild 'variant' one...
  73. Mehta A, Beck M, Eyskens F, Feliciani C, Kantola I, Ramaswami U, et al. Fabry disease: a review of current management strategies. QJM. 2010;103:641-59 pubmed publisher
    b>Fabry disease is an X-linked inherited condition due to the absence or reduction of alpha-galactosidase activity in lysosomes, that results in accumulation of globotriaosylceramide (Gb3) and related neutral glycosphingolipids...
  74. Weidemann F, Niemann M, Warnock D, Ertl G, Wanner C. The Fabry cardiomyopathy: models for the cardiologist. Annu Rev Med. 2011;62:59-67 pubmed publisher
    b>Fabry disease is an X-linked lysosomal storage disorder caused by ?-galactosidase A deficiency. Intracellular accumulation of globotriaosylceramide starts in utero and progressively develops in various tissues and organs...
  75. Wilcox W, Linthorst G, Germain D, Feldt Rasmussen U, Waldek S, Richards S, et al. Anti-?-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry. Mol Genet Metab. 2012;105:443-9 pubmed publisher
    ..of recombinant human ?-galactosidase A (?GAL), is approved for use as enzyme replacement therapy (ERT) for Fabry disease. An immunogenic response against a therapeutic protein could potentially impact its efficacy or safety...
  76. Niemann M, Herrmann S, Hu K, Breunig F, Strotmann J, Beer M, et al. Differences in Fabry cardiomyopathy between female and male patients: consequences for diagnostic assessment. JACC Cardiovasc Imaging. 2011;4:592-601 pubmed publisher
    We hypothesized that Fabry cardiomyopathy in female patients might differ substantially from that in male patients and sought to prove this hypothesis in a large cohort consisting of 104 patients with Fabry disease.
  77. Morier A, Minteer J, Tyszko R, McCann R, Clarke M, Browning M. Ocular manifestations of Fabry disease within in a single kindred. Optometry. 2010;81:437-49 pubmed publisher
    b>Fabry disease is an X-linked lysosomal storage disorder that causes progressive complications within the kidneys, brain, and heart...
  78. Faggiano A, Severino R, Ramundo V, Russo R, Vuolo L, Del Prete M, et al. Thyroid function in Fabry disease before and after enzyme replacement therapy. Minerva Endocrinol. 2011;36:1-5 pubmed
    AM: Patients with Fabry disease (FD), a genetic disorder caused by lysosomal a-galactosidase-A enzyme deficiency and characterized by a systemic accumulation of globotriaosylceramides, present high prevalence of subclinical ..
  79. Rombach S, Aerts J, Poorthuis B, Groener J, Donker Koopman W, Hendriks E, et al. Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome. PLoS ONE. 2012;7:e47805 pubmed publisher
    ..ERT) with alpha-Galactosidase A (aGal A) may cause antibody (AB) formation against aGal A in males with Fabry disease (FD). Anti agalsidase ABs negatively influence globotriaosylceramide (Gb3) reduction...
  80. Blankart C, Stargardt T, Schreyögg J. Availability of and access to orphan drugs: an international comparison of pharmaceutical treatments for pulmonary arterial hypertension, Fabry disease, hereditary angioedema and chronic myeloid leukaemia. Pharmacoeconomics. 2011;29:63-82 pubmed publisher
  81. Aguilar Moncayo M, Takai T, Higaki K, Mena Barragán T, Hirano Y, Yura K, et al. Tuning glycosidase inhibition through aglycone interactions: pharmacological chaperones for Fabry disease and GM1 gangliosidosis. Chem Commun (Camb). 2012;48:6514-6 pubmed publisher
    ..Selected compounds were profiled as potent pharmacological chaperones for mutant lysosomal ?- and ?-Gal associated with Fabry disease and GM(1) gangliosidosis.
  82. Andreotti G, Guarracino M, Cammisa M, Correra A, Cubellis M. Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study. Orphanet J Rare Dis. 2010;5:36 pubmed publisher
    ..Clinical trials are currently carried out for Fabry disease, a lysosomal storage disorder caused by inherited genetic mutations of alpha-galactosidase...
  83. Hughes D, Barba Romero M, Hollak C, Giugliani R, Deegan P. Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS--the Fabry Outcome Survey. Mol Genet Metab. 2011;103:207-14 pubmed publisher
    b>Fabry disease (?-galactosidase A deficiency) is an X-linked disorder...
  84. Lidove O, Kaminsky P, Hachulla E, Leguy Seguin V, Lavigne C, Marie I, et al. Fabry disease 'The New Great Imposter': results of the French Observatoire in Internal Medicine Departments (FIMeD). Clin Genet. 2012;81:571-7 pubmed publisher
    b>Fabry disease (FD) is an X-linked lysosomal storage disorder due to ?-galactosidase A deficiency...
  85. Niemann M, Liu D, Hu K, Herrmann S, Breunig F, Strotmann J, et al. Prominent papillary muscles in Fabry disease: a diagnostic marker?. Ultrasound Med Biol. 2011;37:37-43 pubmed publisher
    b>Fabry disease is often linked with a prominent papillary muscle. It remains unknown whether this sign could be used as a diagnostic marker to screen for Fabry patients...
  86. Lacombe D, Germain D, Papaxanthos Roche A. [Azoospermia as a new feature of Fabry disease]. Rev Med Interne. 2010;31 Suppl 2:S214-6 pubmed publisher
    This case report describes two cases of azoospermia in men suffering from Fabry disease. Testicular biopsies revealed characteristic aspects of trihexosid ceramid deposit in the Leydig cells by optic and electronic microscopic analysis...
  87. Hsu J, Serrano D, Bhowmick T, Kumar K, Shen Y, Kuo Y, et al. Enhanced endothelial delivery and biochemical effects of ?-galactosidase by ICAM-1-targeted nanocarriers for Fabry disease. J Control Release. 2011;149:323-31 pubmed publisher
    b>Fabry disease, due to the deficiency of ?-galactosidase A (?-Gal), causes lysosomal accumulation of globotriaosylceramide (Gb3) in multiple tissues and prominently in the vascular endothelium...
  88. Suzuki Y. Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease. Brain Dev. 2013;35:515-23 pubmed publisher
    ..molecular studies during the last decade of the 20th century and early years of the 21st century, mainly on Fabry disease and GM1-gangliosidosis, we found some mutant enzyme proteins were unstable in the cell, and unable to express ..
  89. Salviati A, Burlina A, Borsini W. Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy. Neurol Sci. 2010;31:299-306 pubmed publisher
    The X-linked genetic Fabry disease causes multiorgan lesions due to intracellular storage of the substrate globotriaosylceramide...
  90. Nguyen Dinh Cat A, Escoubet B, Agrapart V, Griol Charhbili V, Schoeb T, Feng W, et al. Cardiomyopathy and response to enzyme replacement therapy in a male mouse model for Fabry disease. PLoS ONE. 2012;7:e33743 pubmed publisher
    b>Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, (predominately globotriaosylceramide; GL-3) in lysosomes, as well as other cellular ..
  91. Uceyler N, He L, Kahn A, Breunig F, Müllges W, Sommer C. Cerebral blood flow in patients with Fabry disease as measured by Doppler sonography is not different from that in healthy individuals and is unaffected by treatment. J Ultrasound Med. 2012;31:463-8 pubmed
    The purpose of this study was to investigate cervical and cerebral blood flow characteristics in patients with Fabry disease at baseline and under enzyme replacement therapy.
  92. Schermuly I, Muller M, Muller K, Albrecht J, Keller I, Yakushev I, et al. Neuropsychiatric symptoms and brain structural alterations in Fabry disease. Eur J Neurol. 2011;18:347-53 pubmed publisher
    ..NPS), mainly cognitive deficits up to dementia and depressive syndromes have been described repeatedly in Fabry disease (FD). However, examinations regarding the pattern, extent, and frequency of the NPS in FD are still lacking...
  93. Gruner C, Verocai F, Carasso S, Vannan M, Jamorski M, Clarke J, et al. Systolic myocardial mechanics in patients with Anderson-Fabry disease with and without left ventricular hypertrophy and in comparison to nonobstructive hypertrophic cardiomyopathy. Echocardiography. 2012;29:810-7 pubmed publisher
    Anderson-Fabry disease (AFD) is a lysosomal storage disease, which can involve the heart, mimicking hypertrophic cardiomyopathy (HCM)...