4,287 results match your criteria Angiokeratoma Corporis Diffusum Fabry Syndrome


Optical Coherence Tomography Angiography Findings in Fabry Disease.

J Clin Med 2019 Apr 17;8(4). Epub 2019 Apr 17.

Department of Public Medicine, University of Naples "Federico II", 80100 Naples, Italy.

Background: Fabry disease (FD) is a X-linked recessive lysosomal storage disorder characterized by altered biodegradation of glycosphingolipids. It is a multisystem pathology, also involving ophthalmological systems that show modifications of the vessel wall due to glycosphingolipid deposits. Optical coherence tomography angiography (OCT-A) allows for an objective analysis of retinal microvasculature alterations, evaluating retinal vessel density in macular region. Read More

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http://dx.doi.org/10.3390/jcm8040528DOI Listing

Galectin-3 and β-trace protein concentrations are higher in clinically unaffected patients with Fabry disease.

Sci Rep 2019 Apr 17;9(1):6235. Epub 2019 Apr 17.

Department of Cardiology, Hospital Clínico Universitario Virgen de la Arrixaca, Instituto Murciano de Investigación Biosanitaria (IMIB-Arrixaca), University of Murcia, CIBERCV, Murcia, Spain.

Current therapies have not shown benefit in organ damage reversal in Fabry disease (FD), but biomarkers could help risk stratification and prognosis. We investigated if several biomarkers of cardiac fibrosis, cardiac wall stress, myocardial injury, renal function and inflammation, are associated with early cardiac affectation in FD patients. We included FD patients from four cardiology outpatient clinics of southeastern Spain. Read More

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http://dx.doi.org/10.1038/s41598-019-42727-4DOI Listing

Enzyme Replacement Therapy Clears Gb3 Deposits from a Podocyte Cell Culture Model of Fabry Disease but Fails to Restore Altered Cellular Signaling.

Cell Physiol Biochem 2019 ;52(5):1139-1150

Department II of Internal Medicine and Center for Rare Diseases Cologne, University Hospital of Cologne, Cologne, Germany.

Background/aims: Fabry disease (FD) is a lysosomal storage disorder characterized by impaired alpha-galactosidase A (α-Gal A) enzyme activity due to mutations in the GLA gene. While virtually all tissues are affected, renal damage is particularly critical for the patients' outcome. Currently, powerful diagnostic tools and in vivo research models to study FD in the kidney are lacking, which is a major obstacle for further improvements in diagnosis and therapy. Read More

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https://www.cellphysiolbiochem.com/Articles/000077/
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http://dx.doi.org/10.33594/000000077DOI Listing
January 2019
1 Read

Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.

J Hum Genet 2019 Apr 15. Epub 2019 Apr 15.

Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan.

The efficacy of pharmacological chaperone therapy for Fabry disease depends on the type of α-galactosidase A (GLA) mutations. Here, we examined the mutation spectrum of the GLA gene among patients from 115 Japanese families with Fabry disease. Of these, no pathogenic mutations were identified in six families (5. Read More

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http://www.nature.com/articles/s10038-019-0599-z
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http://dx.doi.org/10.1038/s10038-019-0599-zDOI Listing
April 2019
1 Read

[Skin Lesion in Fabry Disease].

Brain Nerve 2019 Apr;71(4):354-359

LSD Center, Nagoya Central Hospital.

Fabry disease is an inborn error metabolisms caused by deficiency of α-galactosidase A activity, and results in glycolipid accumulation of in multiple tissues or organs. Skin lesions occurred in Fabry disease are characterized by angiokeratoma, including acroparesthesia or hypohydrosis, among others. There are important characteristics for the diagnosis of Fabry disease. Read More

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http://dx.doi.org/10.11477/mf.1416201275DOI Listing

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.

Mol Genet Metab 2019 Apr 3. Epub 2019 Apr 3.

Department of Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center "Sphinx", Academic Medical Center, University Hospital of Amsterdam, Amsterdam, the Netherlands.

Background: Fabry disease is a rare, X-linked, lifelong progressive lysosomal storage disorder. Severely deficient α-galactosidase A activity in males is associated with the classic phenotype with early-onset, multisystem manifestations evolving to vital organ complications during adulthood. We assessed the ability of 2 low-dose agalsidase beta regimens to lower skin, plasma, and urine globotriaosylceramide (GL-3) levels, and influence clinical manifestations in male pediatric Fabry patients. Read More

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http://dx.doi.org/10.1016/j.ymgme.2019.03.010DOI Listing
April 2019
1 Read
2.625 Impact Factor

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.

Genet Mol Biol 2019 Apr 11. Epub 2019 Apr 11.

Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.

Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50 genetic disorders. LSDs diagnosis is challenging due to variability in phenotype penetrance, similar clinical manifestations, and a high allelic heterogeneity. A powerful tool for the diagnosis of the disease could reduce the "diagnostic odyssey" for affected families, leading to an appropriate genetic counseling and a better outcome for current therapies, since enzyme replacement therapies have been approved in Brazil for Gaucher, Fabry, and Pompe diseases, and are under development for Niemann-Pick Type B. Read More

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http://dx.doi.org/10.1590/1678-4685-GMB-2018-0092DOI Listing

Altered immune phenotypes in subjects with Fabry disease and responses to switching from agalsidase alfa to agalsidase beta.

Am J Transl Res 2019 15;11(3):1683-1696. Epub 2019 Mar 15.

Lysosomal and Rare Disorders Research and Treatment Center (LDRTC) Fairfax, VA 22030, USA.

Fabry disease (FD) is a rare X-linked genetic disorder caused by mutations in the gene encoding the lysosomal enzyme, α-galactosidase A (α-gal A). The mutations lead to lack of or faulty enzyme causing accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids including globotriaosylsphingosine (lyso-Gb). Treatment options for FD include enzyme replacement therapy. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6456521PMC

Multidisciplinary approach to Fabry disease: from the eye of a neurologist.

Acta Neurol Belg 2019 Apr 9. Epub 2019 Apr 9.

Department of Nephrology, University of Health Sciences Kartal Dr Lütfi Kırdar Training and Research Hospital, Istanbul, Turkey.

Fabry Disease (FD) is an X-linked lysosomal storage disease that emerges as a result of the mutations in the galactosidase A gene encoding alpha-galactosidase. The peripheral nervous system (PNS) involvement manifests itself as acroparesthetic complaints due to the small-fiber involvement. Our goal was to assess the PNS involvement of 14 patients with FD both clinically and electrophysiologically besides the other systemic features. Read More

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http://dx.doi.org/10.1007/s13760-019-01138-yDOI Listing

Generation of -Knockout Human Embryonic Stem Cell Lines to Model Autophagic Dysfunction and Exosome Secretion in Fabry Disease-Associated Hypertrophic Cardiomyopathy.

Cells 2019 Apr 8;8(4). Epub 2019 Apr 8.

Institute of Pharmacology, National Yang-Ming University, Taipei 11221, Taiwan.

Fabry disease (FD) is a rare inherited disorder characterized by a wide range of systemic symptoms; it is particularly associated with cardiovascular and renal problems. Enzyme replacement therapy and pharmacological chaperone migalastat are the only approved and effective treatment strategies for FD patients. It is well documented that alpha-galactosidase A (GLA) enzyme activity deficiency causes globotriaosylceramide (Gb3) accumulation, which plays a crucial role in the etiology of FD. Read More

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http://dx.doi.org/10.3390/cells8040327DOI Listing
April 2019
2 Reads

Mapping Phenotype Development in Fabry Disease.

Circ Cardiovasc Imaging 2019 Apr;12(4):e009067

Cardiac Imaging Department, Barts Heart Centre, St Bartholomew's Hospital, London, United Kingdom. Institute of Cardiovascular Science, University College London, London, United Kingdom.

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http://dx.doi.org/10.1161/CIRCIMAGING.119.009067DOI Listing

Predictors of Clinical Evolution in Prehypertrophic Fabry Disease.

Circ Cardiovasc Imaging 2019 Apr;12(4):e008424

Multimodality Cardiac Imaging Section (A.C., S.P., M.L.), IRCCS Policlinico San Donato, San Donato Milanese, Milano, Italy.

Background: In prehypertrophic Fabry disease, low myocardial T1 values, reflecting sphingolipid storage, are associated with early structural and ECG changes. The correlations between T1 values and functional parameters have not been explored. Furthermore, the potential prognostic role of T1 in predicting disease worsening is still unknown. Read More

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http://dx.doi.org/10.1161/CIRCIMAGING.118.008424DOI Listing
April 2019
2 Reads

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.

Clin Genet 2019 Apr 2. Epub 2019 Apr 2.

Department of Medical Genetics, CHU Bordeaux INSERM U1211, Université de Bordeaux, Bordeaux, France.

Fabry Disease (FD), a rare X-linked disease, can be treated with bi-monthly infusion of enzyme replacement therapy (ERT) to replace deficient α-galactosidase A (AGAL-A). ERT reduces symptoms, improves quality of life, and improves clinical signs and biochemical markers. ERT initiation in childhood could slow or stop progressive organ damage. Read More

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http://dx.doi.org/10.1111/cge.13546DOI Listing

Unusual SPECT myocardial perfusion imaging results in the setting of ventricular hypertrophy and non-obstructive coronary artery disease should suggest Anderson-Fabry disease.

Eur Heart J Cardiovasc Imaging 2019 Apr 1. Epub 2019 Apr 1.

INSERM, U1039, Radiopharmaceutiques Biocliniques, Grenoble Alpes University, Grenoble Alpes, BP 217, Grenoble Cedex 09, France.

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http://dx.doi.org/10.1093/ehjci/jez062DOI Listing
April 2019
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Obstructive sleep apnea and quality of life in Fabry disease: a prospective parallel cohort study.

Sleep Breath 2019 Apr 2. Epub 2019 Apr 2.

Division of Pulmonology, University Hospital Zurich, Raemistrasse 100, 8091, Zurich, Switzerland.

Study Objectives: Patients with Fabry disease (FD) report impaired quality of life and excessive daytime sleepiness. Obstructive sleep apnea (OSA) is frequently reported among patients with FD; however, its prevalence and its influence on quality of life and daytime sleepiness in this population are unclear.

Methods: Patients with FD in a cohort from the University Hospital Zurich (n = 52) were one-to-two matched to healthy adult controls (n = 104) according to age, sex, and body mass index. Read More

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http://dx.doi.org/10.1007/s11325-019-01832-4DOI Listing
April 2019
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Fabry disease: Detection of Alu-mediated exon duplication by NGS.

Mol Cell Probes 2019 Mar 29. Epub 2019 Mar 29.

Clinic for General and Interventional Cardiology/Angiology, Herz- und Diabeteszentrum NRW, Ruhr-Universität Bochum, Bad Oeynhausen, Germany.

Monogenetic diseases can be analyzed routinely by targeted DNA sequencing. If causative variants are not found, complementary methods like RNA sequencing or analysis of copy number variations by multiplex ligation-dependent probe amplification have to be considered. In the latter, especially exonic duplications or deletions can be detected, but the precise sites of mutations remain unclear. Read More

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http://dx.doi.org/10.1016/j.mcp.2019.03.008DOI Listing
March 2019
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An overlooked cutaneous manifestation of Fabry disease: Lower-extremity ulcers.

Int Wound J 2019 Mar 28. Epub 2019 Mar 28.

Department of Dermatology and Venereology, School of Medicine, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1111/iwj.13111DOI Listing

New insights from the application of the FAbry STabilization indEX in a large population of Fabry cases.

Clin Kidney J 2019 Feb 14;12(1):65-70. Epub 2018 Nov 14.

Department of Medicine and Surgery, University of Milano-Bicocca and Nephrology and Dialysis Department, ASST Monza, Italy.

Background: The FAbry STabilization indEX (FASTEX) is an innovative index allowing the assessment of clinical stability over time in Fabry disease patients. This index was developed in a population of 28 male patients with the classical form of Fabry disease.

Objectives: The aim of the study was to test the accuracy of the FASTEX in evaluating Fabry disease stability in 132 male and female patients with classical and non-classical Fabry disease from nine Italian centres and it also aimed to define the sensitivity and specificity of this new tool. Read More

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http://dx.doi.org/10.1093/ckj/sfy108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425459PMC
February 2019
1 Read

Tandem mass spectrometry analysis of urinary podocalyxin and podocin in the investigation of podocyturia in women with preeclampsia and Fabry disease patients.

Clin Chim Acta 2019 Mar 19;495:67-75. Epub 2019 Mar 19.

Division of Medical Genetics, Department of Pediatrics, Université de Sherbrooke, Centre de recherche-CHUS, 3001, 12th Avenue North, Sherbrooke, Quebec J1H 5N4, Canada. Electronic address:

Background: Podocytes are highly differentiated visceral cells, and several related specific proteins, such as podocalyxin and podocin are potential tools for the evaluation of podocyturia. However, precise quantitation of podocyturia-related proteins is complex and often unreliable.

Method: A reversed-phase ultra-performance liquid chromatography coupled to tandem mass spectrometry method was developed and validated to quantify podocalyxin and podocin levels in urine supernatant by using specific cleavable peptides and standards. Read More

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http://dx.doi.org/10.1016/j.cca.2019.03.1615DOI Listing
March 2019
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Fabry nephropathy. Role of nephrologist and clinical variables associated with the diagnosis.

Nefrologia 2019 Mar 16. Epub 2019 Mar 16.

Servicio de Terapia Intensiva, Hospital Dr. Enrique Erill de Escobar, Belén de Escobar, Buenos Aires, Argentina.

Background: The early detection of Fabry nephropathy is of interest to us. Its treatment is more effective in early stages. It has been studied by analysing molecular and tissue biomarkers. Read More

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http://dx.doi.org/10.1016/j.nefro.2018.10.017DOI Listing
March 2019
1 Read

Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype- phenotype correlations.

Appl Clin Genet 2019 5;12:35-50. Epub 2019 Mar 5.

Department of Genetics, Faculty of Medicine, University of Porto, Alameda Hernâni Monteiro, 4200-319 Porto, Portugal,

Fabry disease (FD) is a rare X-linked glycosphingolipidosis resulting from deficient α-galactosidase A (AGAL) activity, caused by pathogenic mutations in the gene. In males, the multisystemic involvement and the severity of tissue injury are critically dependent on the level of AGAL residual enzyme activity (REA) and on the metabolic load of the disease, but organ susceptibility to damage varies widely, with heart appearing as the most vulnerable to storage pathology, even with relatively high REA. The expression of FD can be conceived as a multidomain phenotype, where each of the component domains is the laboratory or clinical expression of the causative mutation along a complex pathophysiologic cascade pathway. Read More

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http://dx.doi.org/10.2147/TACG.S146022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407513PMC

Improved Efficacy in a Fabry Disease Model Using a Systemic mRNA Liver Depot System as Compared to Enzyme Replacement Therapy.

Mol Ther 2019 Apr 6;27(4):878-889. Epub 2019 Mar 6.

Translate Bio, Lexington, MA 02141, USA. Electronic address:

Fabry disease is a lysosomal storage disorder caused by the deficiency of α-galactosidase A. Enzyme deficiency results in a progressive decline in renal and cardiac function, leading to cardiomyopathy and end-stage renal disease. Current treatments available, including enzyme replacement therapies, have provided significant benefit to patients; however, unmet medical needs remain. Read More

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http://dx.doi.org/10.1016/j.ymthe.2019.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6453518PMC

Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates.

Am J Hum Genet 2019 Apr 14;104(4):625-637. Epub 2019 Mar 14.

Moderna Inc, 200 Technology Square, Cambridge, MA 02139, USA. Electronic address:

Fabry disease is an X-linked lysosomal storage disease caused by loss of alpha galactosidase A (α-Gal A) activity and is characterized by progressive accumulation of globotriaosylceramide and its analogs in all cells and tissues. Although enzyme replacement therapy (ERT) is considered standard of care, the long-term effects of ERT on renal and cardiac manifestations remain uncertain and thus novel therapies are desirable. We herein report preclinical studies evaluating systemic messenger RNA (mRNA) encoding human α-Gal A in wild-type (WT) mice, α-Gal A-deficient mice, and WT non-human primates (NHPs). Read More

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http://dx.doi.org/10.1016/j.ajhg.2019.02.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451694PMC
April 2019
3 Reads

Hybrid positron emission tomography-magnetic resonance imaging for assessing different stages of cardiac impairment in patients with Anderson-Fabry disease: AFFINITY study group.

Eur Heart J Cardiovasc Imaging 2019 Mar 16. Epub 2019 Mar 16.

Department of Advanced Biomedical Sciences, University of Naples Federico II, Via Pansini 5, Naples, Italy.

Aims: Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder associated with multi-organ dysfunction. While native myocardial T1 mapping by magnetic resonance (MR) allow non-invasive measurement of myocyte sphingolipid accumulation, 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography (PET) and MR are able to identify different pathological patterns of disease progression. We investigated the relationship between T1 mapping and 18F-FDG uptake by hybrid PET-MR cardiac imaging in AFD female patients. Read More

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http://dx.doi.org/10.1093/ehjci/jez039DOI Listing
March 2019
3.669 Impact Factor

Migalastat: A Review in Fabry Disease.

Drugs 2019 Apr;79(5):543-554

Springer, Private Bag 65901, Mairangi Bay, Auckland, 0754, New Zealand.

Fabry disease is a rare lysosomal disorder characterized by deficient or absent α-galactosidase A activity resulting from mutations in the GLA gene. Migalastat (Galafold™), a pharmacological chaperone, stabilizes and facilitates trafficking of amenable mutant forms of α-galactosidase A enzyme from the endoplasmic reticulum to lysosomes and increases its lysosomal activity. Oral migalastat is the first pharmacological chaperone approved for treating patients [aged ≥ 18 years (USA and Canada) or ≥ 16 years in other countries] with Fabry disease who have a migalastat-amenable GLA mutation. Read More

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http://dx.doi.org/10.1007/s40265-019-01090-4DOI Listing

Dysregulated DNA methylation of GLA gene was associated with dysfunction of autophagy.

Mol Genet Metab 2019 Mar 7. Epub 2019 Mar 7.

Advanced Clinical Research Center, Institute for Neurological Disorders, Kawasaki, Japan. Electronic address:

Lysosomes are an essential organ for cellular metabolism and play an important role in autophagy. We examined the association between methylation and autophagy in a severely affected female patient with Fabry disease, which is caused by mutation of the GLA gene on the X chromosome, and her two sisters, who had few symptoms. We confirmed autophagic flux by LC3 turnover assay using fibroblasts from each sister. Read More

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http://dx.doi.org/10.1016/j.ymgme.2019.03.003DOI Listing
March 2019
6 Reads

Podocyturia: why it may have added value in rare diseases.

Clin Kidney J 2019 Feb 5;12(1):49-52. Epub 2018 Oct 5.

IIS-Fundacion Jimenez Diaz, School of Medicine, Universidad Autonoma de Madrid; Fundacion Renal Iñigo Alvarez de Toledo-IRSIN and REDINREN, Madrid, Spain.

Fabry disease is an inherited lysosomal disease in which defects in the gene lead to α-galactosidase-A deficiency, and accumulation of glycosphingolipids, including lyso-Gb3, a podocyte stressor. Therapy is available as enzyme replacement therapy and, for some patients, the chaperone migalastat. A key decision is when to start therapy, given its costs and potential impact on some aspects of quality of life. Read More

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http://dx.doi.org/10.1093/ckj/sfy081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407136PMC
February 2019
5 Reads

A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease.

Front Genet 2019 11;10:60. Epub 2019 Feb 11.

Institutes of Biomedical Sciences, Shanxi University, Taiyuan, China.

Fabry disease (FD) is a rare X-linked α-galactosidase A () deficiency, resulting in progressive lysosomal accumulation of globotriaosylceramide (Gb3) in a variety of cell types. Here, we report a novel splicing mutation (c.801 + 1G > A) that results in alternative splicing in of a FD patient with variable phenotypic presentations of renal involvement. Read More

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http://dx.doi.org/10.3389/fgene.2019.00060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396734PMC
February 2019

Effect of Enzyme Replacement Therapy on Basilar Artery Diameter in Male Patients With Fabry Disease.

Stroke 2019 Apr;50(4):1010-1012

Department of Neurology (K.M., M.S., H.M.), Osaka University Graduate School of Medicine, Japan.

Background and Purpose- The effect of enzyme replacement therapy (ERT) on cerebrovascular complications remains largely unexplored. We aimed to investigate the relationship between basilar artery (BA) diameter and long-term ERT in patients with Fabry disease. Methods- We obtained baseline magnetic resonance imaging data from 30 patients (40. Read More

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http://dx.doi.org/10.1161/STROKEAHA.118.024426DOI Listing
April 2019
1 Read

Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial.

J Inherit Metab Dis 2019 Mar 4. Epub 2019 Mar 4.

Department of Haematology, LSDU, Institute of Immunity and Transplantation, Royal Free London NHS Foundation Trust, London, UK.

Pegunigalsidase alfa, a novel PEGylated, covalently crosslinked form of α-galactosidase A developed as enzyme replacement therapy (ERT) for Fabry disease (FD), was designed to increase plasma half-life and reduce immunogenicity, thereby enhancing efficacy compared with available products. Symptomatic adults with FD participated in this open-label, 3-month dose-ranging study, followed by a 9-month extension. Three cohorts were enrolled in a stepwise manner, each receiving increased doses of pegunigalsidase alfa: 0. Read More

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http://dx.doi.org/10.1002/jimd.12080DOI Listing
March 2019
1 Read

Dorsal root ganglia volume is increased in patients with the Fabry-related GLA variant p.D313Y.

J Neurol 2019 Mar 4. Epub 2019 Mar 4.

Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.

Purpose: To examine dorsal root ganglia and proximal nerve segments in patients carrying the Fabry-related GLA-gene variant p.D313Y in comparison to patients with classical Fabry mutations and healthy controls by morphometric and functional magnetic resonance neurography.

Methods: This prospective multicenter study examines the lumbosacral dorsal root ganglia and sciatic nerve in 11 female p. Read More

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http://dx.doi.org/10.1007/s00415-019-09262-8DOI Listing
March 2019
2 Reads

Fabry disease in cardiology practice: Literature review and expert point of view.

Arch Cardiovasc Dis 2019 Apr 28;112(4):278-287. Epub 2019 Feb 28.

French Referral Centre for Fabry Disease, Division of Medical Genetics, hôpital Raymond-Poincare, AP-HP, 92380 Garches, France; Inserm U1179, University of Versailles, 78180 Montigny, France.

Fabry disease is an X-linked progressive multisystemic genetic sphingolipidosis caused by deficient activity of lysosomal α-galactosidase A. Men aged>30 years and women aged>40 years most often present with unexplained left ventricular hypertrophy, usually concentric and non-obstructive, but sometimes mimicking sarcomeric hypertrophic cardiomyopathy, particularly when isolated, as in the cardiac or late-onset variant of the disease. In hypertrophic cardiomyopathy cohorts, up to 1% of patients have been diagnosed with Fabry disease. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18752136193003
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http://dx.doi.org/10.1016/j.acvd.2019.01.002DOI Listing
April 2019
3 Reads

Searching for an additional treatment to slowing the progression of Fabry disease.

Minerva Med 2019 Apr;110(2):176-178

Unit of Nephrology, Dialysis, and Transplantation, Department of Medicine, University of Padua, Padua, Italy -

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http://dx.doi.org/10.23736/S0026-4806.18.05799-3DOI Listing
April 2019
3 Reads

Prevalence of Fabry Disease in Korean Men with Left Ventricular Hypertrophy.

J Korean Med Sci 2019 Feb 15;34(7):e63. Epub 2019 Feb 15.

Waon Therapy Research Institute, Tokyo, Japan.

Background: Fabry disease is an X-linked recessive disorder caused by deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A). Previous studies identified many cases of Fabry disease among men with left ventricular hypertrophy (LVH). The purpose of this study was to define the frequency of Fabry disease among Korean men with LVH. Read More

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https://synapse.koreamed.org/DOIx.php?id=10.3346/jkms.2019.3
Publisher Site
http://dx.doi.org/10.3346/jkms.2019.34.e63DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384437PMC
February 2019
2 Reads

Safety and effectiveness of enzyme replacement therapy with agalsidase alfa in patients with Fabry disease: Post-marketing surveillance in Japan.

Mol Genet Metab 2019 Feb 20. Epub 2019 Feb 20.

Sumitomo Dainippon Pharma Co., Ltd., Osaka, Japan.

Fabry disease is a rare X-linked inherited multisystem disorder resulting from deficiency of the lysosomal enzyme alpha-galactosidase A. Currently, specific therapies, including enzyme replacement therapies, are available for Fabry disease, but clinical trials provide limited information on long-term safety and effectiveness. Agalsidase alfa was approved in Japan in 2006. Read More

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http://dx.doi.org/10.1016/j.ymgme.2019.02.005DOI Listing
February 2019
3 Reads

Dyshidrosis is associated with reduced amplitudes in electrically evoked pain-related potentials in women with Fabry disease.

Clin Neurophysiol 2019 Apr 4;130(4):528-536. Epub 2019 Feb 4.

Department of Neurology, University of Würzburg, Germany; Fabry Center for Interdisciplinary Therapy (FAZIT), University of Würzburg, Germany. Electronic address:

Objective: To investigate A-delta fiber conduction in mild to moderate Fabry disease (FD) patients using pain-related evoked potentials (PREP).

Methods: In this case-control study we prospectively investigated 58 patients with mild to moderate FD and compared data with those of healthy controls. Small fiber function (quantitative sensory testing, QST and sympathetic skin response, SSR), morphology (intraepidermal nerve fiber density, IENFD), and electrical conduction (PREP) were assessed and correlated with sweating as major autonomic function disturbed in FD. Read More

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http://dx.doi.org/10.1016/j.clinph.2019.01.008DOI Listing
April 2019
1 Read

[Genetic causes of stroke in young patients].

Zh Nevrol Psikhiatr Im S S Korsakova 2019;119(1):102-109

Vladimirsky Moscow Regional Research and Clinical Institute, Moscow, Russia.

The paper addresses genetic causes of stroke: MELAS, antiphospholipid syndrome, CADASIL, Fabry disease. The etiology and pathogenesis, symptoms, diagnosis, treatment methods of these diseases are described. Read More

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http://dx.doi.org/10.17116/jnevro2019119011102DOI Listing
January 2019
2 Reads

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts.

Mol Genet Metab Rep 2019 Jun 6;19:100454. Epub 2019 Feb 6.

Department of Paediatrics, University of Torino, Torino, Italy.

Background: Enzyme replacement therapy (ERT) with recombinant human α-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA. Treatment outcomes with ERT are dependent on baseline patient characteristics, and published data are derived from heterogeneous study populations.

Methods: We conducted a comprehensive systematic literature review of all original articles on ERT in the treatment of Fabry disease published up until January 2017. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2019.100454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365982PMC
June 2019
1 Read

Migalastat for Fabry disease.

Authors:

Aust Prescr 2019 Feb 13;42(1):36-37. Epub 2018 Dec 13.

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http://dx.doi.org/10.18773/austprescr.2018.073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370600PMC
February 2019

Maternal germline mosaicism in Fabry disease.

Neurol Sci 2019 Feb 14. Epub 2019 Feb 14.

Division of Neurology, Madonna del Soccorso Hospital, AV5, San Benedetto del Tronto, Italy.

Fabry disease (FD) is an X-linked monogenic disorder caused by mutations in the GLA gene which leads to a deficiency of the functionally active lysosomal α-galactosidase A enzyme. Here, we report on a family of five members: unaffected parents, one unaffected son, and another son and daughter both carrying the same mutation (p.G138E) in the GLA gene. Read More

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http://dx.doi.org/10.1007/s10072-019-03754-1DOI Listing
February 2019
3 Reads

[The unusual couple: a clinical case of coexistence between aHUS and Fabry's disease].

G Ital Nefrol 2019 Feb;36(1)

Professore Ordinario di Nefrologia, Università degli Studi della Campania, Luigi Vanvitelli.

Atypical hemolytic-uremic syndrome (aHUS) is a rare, potentially lethal (1-4) systemic disorder, capable of affecting both adults and children, causing thrombotic microangiopathy (TMA) (5) that leads to the formation of thrombus within small blood vessels with multiple organ failure. The pathogenesis of the aHUS is part of a sort of chronic and uncontrolled activation of the complement system by genetic mutation of some proteins usually responsible for its self-regulation (6,7). Today, the rapid diagnosis of the disease and the timely start of treatment with eculizumab, improve outcomes of renal failure, stroke and heart attack (8-10). Read More

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February 2019
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Assessment of Cardiac Involvement in Fabry Disease (FD) with Native T1 Mapping.

Rofo 2019 Feb 12. Epub 2019 Feb 12.

Neurology, Justus-Liebig-University, Giessen, Germany.

Purpose:  Fabry disease (FD) is an X-linked multi-organ disorder of lysosomal metabolism with cardiac disease being the leading cause of death. Identifying early FD-specific pathologies is important in the context of maximum therapeutic benefit in these stages. Therefore, the aim of this study was to investigate the value of quantitative cardiac T1 mapping as a potential disease-specific surrogate. Read More

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http://dx.doi.org/10.1055/a-0836-2723DOI Listing
February 2019
6 Reads

Early decrease in the podocalyxin to synaptopodin ratio in urinary Fabry podocytes.

Clin Kidney J 2019 Feb 20;12(1):53-60. Epub 2018 Jul 20.

IFIBIO Houssay, CONICET, Physiopathology, Pharmacy and Biochemistry Faculty, Universidad de Buenos Aires, Buenos Aires, Argentina.

Background: In Fabry nephropathy, podocyturia is an early event that may lead to glomerulosclerosis and chronic kidney disease. The glycocalyx is a potential podocyte damaged compartment in glomerulopathies. We investigated glycocalyx podocalyxin in urinary detached podocytes compared with cytoplasmic synaptopodin. Read More

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http://dx.doi.org/10.1093/ckj/sfy053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6366138PMC
February 2019
1 Read

Will the FAbry STabilization indEX make its way to everyday clinical practice?

Clin Kidney J 2019 Feb 24;12(1):61-64. Epub 2018 Dec 24.

Department of Internal Medicine I, Division of Nephrology, University Hospital Würzburg, Würzburg, Germany.

Despite several attempts at setting up a standardized disease severity score for Fabry disease in the past, none have been established in routine clinical practice due to the multisystem nature and complexity of this inherited enzyme deficiency disorder. In this issue, Mignani . report a large multicentre application of the FASTEX, an online tool to assess disease progress over time that offers simple data inputting and graphic illustration of disease progression or stabilization. Read More

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http://dx.doi.org/10.1093/ckj/sfy126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6366128PMC
February 2019

Pharmacokinetics, pharmacodynamics, and safety of moss-aGalactosidase A in patients with Fabry disease.

J Inherit Metab Dis 2019 Jan 12. Epub 2019 Jan 12.

Greenovation Biotech GmbH, Freiburg, Germany.

Moss-aGalactosidase A (moss-aGal) is a moss-derived version of human α-galactosidase developed for enzyme replacement therapy in patients with Fabry disease. It exhibits a homogenous N-glycosylation profile with >90% mannose-terminated glycans. In contrast to mammalian cell produced α-galactosidase, moss-aGal does not rely on mannose-6-phosphate receptor mediated endocytosis but targets the mannose receptor for tissue uptake. Read More

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http://dx.doi.org/10.1002/jimd.12052DOI Listing
January 2019
7 Reads

Lysosomal storage disease overview.

Authors:
Angela Sun

Ann Transl Med 2018 Dec;6(24):476

Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, WA, USA.

The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are caused for the most part by enzyme deficiencies within the lysosome resulting in accumulation of undegraded substrate. This storage process leads to a broad spectrum of clinical manifestations depending on the specific substrate and site of accumulation. Examples of LSDs include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses. Read More

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http://dx.doi.org/10.21037/atm.2018.11.39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331358PMC
December 2018
5 Reads

[Hypertrophic cardiomyopathies].

Authors:
O Lairez

Rev Med Interne 2019 Feb 7. Epub 2019 Feb 7.

Fédération médico-chirurgicale de cardiologie, CHU Rangueil, 1, avenue Jean-Poulhès, TSA 50032, 31059 Toulouse cedex 9, France; Centre d'imagerie cardiaque, CHU de Toulouse, 31000 Toulouse, France; Faculté de médecine Toulouse - Purpan, université Paul-Sabatier, 31000 Toulouse, France. Electronic address:

Hypertrophic cardiomyopathies represent a heterogeneous group of pathophysiological mechanisms and etiologies (genetic or not), which lead to the development of left ventricular hypertrophy. Left ventricular hypertrophy, when not explained by a significant and prolonged increase in post-load (such as severe poorly controlled arterial hypertension or severe aortic stenosis) justifies etiological exploration. The etiology may range from physiological adaptation in the athlete to myocardial involvement, isolated or integrated as part of a global neuromuscular involvement; metabolic or mitochondrial disease to deposition disease. Read More

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http://dx.doi.org/10.1016/j.revmed.2019.01.001DOI Listing
February 2019
2 Reads