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Fabry Disease

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Treatment of Anderson-Fabry disease.

Irene Simonetta, Antonino Tuttolomondo, Mario Daidone, Salvatore Miceli, Antonio Pinto,

Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, predominantly globotriaosylsphingosine (Gb3) in lysosomes, as well as other cellular compartments of several tissues, causing multiorgan manifestations ( acroparesthesias, hypohidrosis, angiokeratomas, signs and symptoms of cardiac, renal, cerebrovascular involvement). Pathogenic mutations lead to ... Read more >>

Curr. Pharm. Des. (Current pharmaceutical design)
[2020, :]

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Determination of globotriaosylceramide analogs in the organs of a mouse model of Fabry disease.

Satoshi Ishii, Atsumi Taguchi, Nozomu Okino, Makoto Ito, Hiroki Maruyama,

Fabry disease is a heritable lipid disorder caused by the low activity of α-galactosidase A and characterized by the systemic accumulation of globotriaosylceramide (Gb3). Recent studies have reported a structural heterogeneity of Gb3 in Fabry disease, including Gb3 isoforms with different fatty acids, and Gb3 analogs with modifications on the ... Read more >>

J. Biol. Chem. (The Journal of biological chemistry)
[2020, :]

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Treatment of Fabry disease with migalastat - outcome from a prospective observational multicenter study (FAMOUS).

Malte Lenders, Peter Nordbeck, Christine Kurschat, Nesrin Karabul, Jessica Kaufeld, Julia B Hennermann, Monica Patten, Markus Cybulla, Jonas Müntze, Nurcan Üçeyler, Dan Liu, Anibh M Das, Claudia Sommer, Christian Pogoda, Stefanie Reiermann, Thomas Duning, Jens Gaedeke, Katharina Stumpfe, Daniela Blaschke, Stefan-Martin Brand, W Alexander Mann, Christoph Kampmann, Nicole Muschol, Sima Canaan-Kühl, Eva Brand,

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme α-galactosidase A (α-Gal A) leading to intracellular accumulation of globotriaosylceramide (Gb3). Patients with amenable mutations can be treated with migalastat, a recently approved oral pharmacologic chaperone to increase endogenous α-Gal A activity. ... Read more >>

Clin. Pharmacol. Ther. (Clinical pharmacology and therapeutics)
[2020, :]

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Fabry Disease With Concomitant Lewy Body Disease.

Kelly Del Tredici, Albert C Ludolph, Simone Feldengut, Christian Jacob, Heinz Reichmann, Jürgen R Bohl, Heiko Braak,

Although Gaucher disease can be accompanied by Lewy pathology (LP) and extrapyramidal symptoms, it is unknown if LP exists in Fabry disease (FD), another progressive multisystem lysosomal storage disorder. We aimed to elucidate the distribution patterns of FD-related inclusions and LP in the brain of a 58-year-old cognitively unimpaired male ... Read more >>

J. Neuropathol. Exp. Neurol. (Journal of neuropathology and experimental neurology)
[2020, 79(4):378-392]

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Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.

Dominique P Germain, João Paulo Oliveira, Daniel G Bichet, Han-Wook Yoo, Robert J Hopkin, Roberta Lemay, Juan Politei, Christoph Wanner, William R Wilcox, David G Warnock,

BACKGROUND:Fabry disease (α-galactosidase deficiency) is an X-linked genetic disease caused by a variety of pathogenic GLA variants. The phenotypic heterogeneity is considerable, with two major forms, classic and later-onset disease, but adjudication of clinical phenotype is currently lacking for many variants. We aimed to determine consensus phenotypic classification for previously ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2020, :]

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Fabry disease screening in high-risk populations in Japan: A nationwide study

Jun Kido, Shinichiro Yoshida, Takaaki Sawada, Ken Momosaki, Keishin Sugawara, Shirou Matsumoto, Fumio Endo, Kimitoshi Nakamura,

<title>Abstract</title> <p> Background: Fabry disease (FD) is a rare, X-linked inherited disorder caused by mutations in the GLA gene, which results in deficiency of α-galactosidase A (α-Gal A). This leads to the progressive accumulation of metabolites, which can cause malfunctions in systemic organs. A recent screening study in ... Read more >>

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Characterization of ocular involvement in patients with Fabry disease

Wei Zhang, Yuan Wu, Xuyang Yao, Wenjing Song, Yawen Zhao, Xiaoming Yan, Yun Yuan,

<title>Abstract</title> <p> Background Fabry diseas (FD) is an X-linked recessive lysosomal storage disease that is caused by deficient activity of the lysosomal enzyme α-galactosidase A. Ocular abnormalities have been regarded as characteristic, frequent and easily accessed findings in Fabry disease, and have a high diagnostic value. Some of ... Read more >>

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Clinical course and pathological findings of two late-onset Fabry hemizygous patients including mulberry cell counts after enzyme replacement therapy.

Homare Shimohata, Marina Yamashita, Kentaro Ohgi, Hiroshi Maruyama, Mamiko Takayasu, Kouichi Hirayama, Masaki Kobayashi,

Fabry disease is an X-linked inherited lysosomal storage disorder caused by a deficiency of α-galactosidase A activity, resulting in the intracellular accumulation of globotriaosylceramide and related glycosphingolipids. The phenotypes of Fabry disease in both males and females are grouped into two categories: the classical type and the late-onset type. The ... Read more >>

CEN Case Rep (CEN case reports)
[2020, :]

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New drugs for the treatment of Anderson-Fabry disease.

Sandro Feriozzi, Derralynn A Hughes,

Enzyme replacement therapy (ERT) of the Anderson-Fabry disease (AFD) has changed the outcome of patients. However, ERT has some limitations: a restricted volume of distribution, requirement for intravenous access, and stimulation of the production of anti-drug antibodies. Studies of new drugs aiming to improve the clinical effectiveness and convenience of ... Read more >>

J. Nephrol. (Journal of nephrology)
[2020, :]

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Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss.

Behzad Najafian, Camilla Tøndel, Einar Svarstad, Marie-Claire Gubler, João-Paulo Oliveira, Michael Mauer,

BACKGROUND:In males with classic Fabry disease, the processes leading to the frequent outcome of ESKD are poorly understood. Defects in the gene encoding α-galactosidase A lead to accumulation of globotriaosylceramide (GL3) in various cell types. In the glomerular podocytes, accumulation of GL3 progresses with age. Of concern, podocytes are relatively ... Read more >>

J. Am. Soc. Nephrol. (Journal of the American Society of Nephrology : JASN)
[2020, :]

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Myocardial Edema, Myocyte Injury, and Disease Severity in Fabry Disease.

João B Augusto, Sabrina Nordin, Ravi Vijapurapu, Shanat Baig, Heerajnarain Bulluck, Silvia Castelletti, Mashael Alfarih, Kristopher Knott, Gabriella Captur, Tushar Kotecha, Uma Ramaswami, Michel Tchan, Tarekegn Geberhiwot, Marianna Fontana, Richard P Steeds, Derralynn Hughes, Rebecca Kozor, James C Moon,

Background Cardiovascular magnetic resonance can demonstrate myocardial processes in Fabry disease (FD), such as low native T1 (sphingolipid storage) and late gadolinium enhancement (LGE, scar). Recently, high T2 (edema) has been observed in the basal inferolateral wall along with troponin elevation. We hypothesized that edema and myocyte injury would be ... Read more >>

Circ Cardiovasc Imaging (Circulation. Cardiovascular imaging)
[2020, 13(3):e010171]

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Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses.

Galina Baydakova, Alex Ilyushkina, Lidia Gaffke, Karolina Pierzynowska, Igor Bychkov, Agnieszka Ługowska, Grzegorz Wegrzyn, Anna Tylki-Szymanska, Ekaterina Zakharova,

Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders associated with impaired glycosaminoglycans (GAGs) catabolism. In MPS I, II, III, and VII, heparan sulfate (HS) cannot be degraded because of the lack of sufficient activity of the respective enzymes, and its accumulation in the brain causes neurological symptoms. Globotriaosylsphingosine (LysoGb3), ... Read more >>

Diagnostics (Basel) (Diagnostics (Basel, Switzerland))
[2020, 10(3):]

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The Changing Landscape of Fabry Disease.

Einar Svarstad, Hans Peter Marti,

Clin J Am Soc Nephrol (Clinical journal of the American Society of Nephrology : CJASN)
[2020, :]

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The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia.

Andrew Mallett, Phoebe Kearey, Anne Cameron, Helen Healy, Charles Denaro, Mark Thomas, Vincent W Lee, Samantha Stark, Maria Fuller, Wendy E Hoy,

BACKGROUND:Fabry disease (FD) is a rare, lysosomal storage disorder caused by the absence or deficiency of the enzyme alpha-galactosidase A (α-Gal A) that leads to the abnormal accumulation of the lipid globotriaosylceramide (GB3) in a variety of cell types and tissues throughout the body. FD has an x-linked inheritance pattern. ... Read more >>

BMC Nephrol (BMC nephrology)
[2020, 21(1):58]

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Developments in the treatment of Fabry disease.

Sanne J van der Veen, Carla E M Hollak, André B P van Kuilenburg, Mirjam Langeveld,

Enzyme replacement therapy (ERT) with recombinant α-galactosidase A (r-αGAL A) for the treatment of Fabry disease has been available for over 15 years. Long-term treatment may slow down disease progression, but cardiac, renal, and cerebral complications still develop in most patients. In addition, lifelong intravenous treatment is burdensome. Therefore, several new ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2020, :]

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Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology.

M Mancuso, M Arnold, A Bersano, A Burlina, H Chabriat, S Debette, C Enzinger, A Federico, A Filla, J Finsterer, D Hunt, S Lesnik Oberstein, E Tournier-Lasserve, H S Markus,

BACKGROUND AND PURPOSE:Guidelines on monogenic cerebral small-vessel disease (cSVD) diagnosis and management are lacking. Endorsed by the Stroke and Neurogenetics Panels of the European Academy of Neurology, a group of experts has provided recommendations on selected monogenic cSVDs, i.e. cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral ... Read more >>

Eur. J. Neurol. (European journal of neurology)
[2020, :]

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Synthesis of multimeric pyrrolidine iminosugar inhibitors of human β-glucocerebrosidase and α-galactosidase A: First example of a multivalent enzyme activity enhancer for Fabry disease.

Macarena Martínez-Bailén, Ana T Carmona, Francesca Cardona, Camilla Matassini, Andrea Goti, Moemi Kubo, Atsushi Kato, Inmaculada Robina, Antonio J Moreno-Vargas,

The synthesis of a chemical library of multimeric pyrrolidine-based iminosugars by incorporation of three pairs of epimeric pyrrolidine-azides into different alkyne scaffolds via CuAAC is presented. The new multimers were evaluated as inhibitors of two important therapeutic enzymes, human α-galactosidase A (α-Gal A) and lysosomal β-glucocerebrosidase (GCase). Structure-activity relationships were ... Read more >>

Eur J Med Chem (European journal of medicinal chemistry)
[2020, 192:112173]

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Comprehensive assessment of hypertensive heart disease: cardiac magnetic resonance in focus.

Marijana Tadic, Cesare Cuspidi, Sven Plein, Isidora Grozdic Milivojevic, Dao Wen Wang, Guido Grassi, Giuseppe Mancia,

Arterial hypertension represents the most frequent cardiovascular risk factor that is associated with cardiac remodeling. Hypertensive heart disease was defined by the presence of left ventricular hypertrophy (LVH) and diastolic dysfunction, and it has been diagnosed by echocardiography in everyday clinical practice. Interstitial myocardial fibrosis is the underlying cause of ... Read more >>

Heart Fail Rev (Heart failure reviews)
[2020, :]

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Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study.

Marina Brailova, Guillaume Clerfond, Romain Trésorier, Régine Minet-Quinard, Julie Durif, Grégoire Massoullié, Bruno Pereira, Vincent Sapin, Romain Eschalier, Damien Bouvier,

Many inherited metabolic diseases (IMD) have cardiac manifestations. The aim of this study was to estimate the prevalence of IMD in adult patients with hypertrophic cardiomyopathy (HCM) and cardiac rhythm abnormalities that require cardiac implantable electronic devices (CIEDs). The study included a review of the medical files of patients aged ... Read more >>

J Clin Med (Journal of clinical medicine)
[2020, 9(3):]

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The mutation D313Y may be associated with nervous system manifestations in Fabry disease.

Christina Zompola, Lina Palaiodimou, Panagiotis Kokotis, Marianna Papadopoulou, Aikaterini Theodorou, Nikolaos Sabanis, Efterpi Theodoroula, Matilda Papathanasiou, Georgios Tsivgoulis, Elisabeth Chroni,

J. Neurol. Sci. (Journal of the neurological sciences)
[2020, 412:116757]

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Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics: Yield and Clinical Significance.

Sara Hoss, Manhal Habib, Josh Silver, Melanie Care, Raymond H Chan, Kate Hanneman, Chantal F Morel, Robert M Iwanochko, Michael H Gollob, Harry Rakowski, Arnon Adler,

Background - Genetic testing is helpful for diagnosis of hypertrophic cardiomyopathy (HCM) mimics. Little data is available regarding the yield of such testing and its clinical impact. Methods - The HCM genetic database at our center was used for identification of patients who underwent HCM-directed genetic testing including at least ... Read more >>

Circ Genom Precis Med (Circulation. Genomic and precision medicine)
[2020, :]

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Cardiomyopathy and kidney function in agalsidase beta-treated female Fabry patients: a pre-treatment vs. post-treatment analysis.

Christoph Wanner, Ulla Feldt-Rasmussen, Ana Jovanovic, Aleš Linhart, Meng Yang, Elvira Ponce, Eva Brand, Dominique P Germain, Derralynn A Hughes, John L Jefferies, Ana Maria Martins, Albina Nowak, Bojan Vujkovac, Frank Weidemann, Michael L West, Alberto Ortiz,

AIMS:Long-term treatment effect studies in large female Fabry patient groups are challenging to design because of phenotype heterogeneity and lack of appropriate comparison groups, and have not been reported. We compared long-term cardiomyopathy and kidney function outcomes after agalsidase beta treatment with preceding treatment-naive outcomes. METHODS AND RESULTS:Self-controlled pretreatment and ... Read more >>

ESC Heart Fail (ESC heart failure)
[2020, :]

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Quality of life and psychological functioning of pediatric and young adult patients with Gaucher disease, type 1.

Andrea G Alioto, Rowena Gomez, James Moses, Jennifer Paternostro, Seymour Packman, Wendy Packman,

This study examined the health-related quality of life (HRQoL) and psychological functioning of children and young adults with Gaucher disease, type 1 (GD1). Thirty-two (17 pediatric, 15 young adult) patients with GD1 and one parent completed age-appropriate assessments of HRQoL, emotional, and behavioral health. The HRQoL of children with GD1 ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease.

Silvia Paciotti, Elisabetta Albi, Lucilla Parnetti, Tommaso Beccari,

Ceramides are a family of bioactive lipids belonging to the class of sphingolipids. Sphingolipidoses are a group of inherited genetic diseases characterized by the unmetabolized sphingolipids and the consequent reduction of ceramide pool in lysosomes. Sphingolipidoses include several disorders as Sandhoff disease, Fabry disease, Gaucher disease, metachromatic leukodystrophy, Krabbe disease, ... Read more >>

J Clin Med (Journal of clinical medicine)
[2020, 9(2):]

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Genetic Testing in Pediatric Kidney Disease.

Veronica Arora, Kanav Anand, Ishwar Chander Verma,

The advent of next gene sequencing technology has led to the publication of a profusion of papers on monogenic contributions to pediatric kidney disorders. It started with the discovery of mutations in the podocin gene in steroid resistant nephrotic syndrome (SRNS). It is realized now that genetic disorders contribute to ... Read more >>

Indian J Pediatr (Indian journal of pediatrics)
[2020, :]

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