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    4074 results match your criteria Angiokeratoma Corporis Diffusum Fabry Syndrome

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    Genital angiokeratoma in a woman with Fabry disease: the dermatologist's role.
    An Bras Dermatol 2018 Jun;93(3):426-428
    Department of Pediatrics, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
    Fabry disease is a rare lysosomal storage disorder, inherited in an X-linked manner. It is characterized by the deficiency of the enzyme alpha-galactosidase, leading to a buildup of glycosphingolipids in the cells. Angiokeratoma is one of the cutaneous manifestations of this condition, and it helps making the diagnosis. Read More

    Diagnostic Clues for the Diagnosis of Nonsarcomeric Hypertrophic Cardiomyopathy (Phenocopies): Amyloidosis, Fabry Disease, and Mitochondrial Disease.
    J Cardiovasc Echogr 2018 Apr-Jun;28(2):120-123
    Department of Cardiothoracic Sciences, "Luigi Vanvitelli"-Campania University, Naples, Italy.
    Hypertrophic cardiomyopathy (HCM) is the most common known inherited heart disorder, with a prevalence of 1:500 of the adult population. Etiology of HCM can be heterogeneous, with sarcomeric gene disease as the leading cause in up to 60% of the patients, and with a number of possible different diseases (phenocopies) in about 10%-15% of the patients. Early diagnosis of storage and infiltrative disorders, particularly those with specific treatments (i. Read More

    Anderson-Fabry disease in heart failure.
    Biophys Rev 2018 Jun 16. Epub 2018 Jun 16.
    Institute of Cardiovascular Science, University College London, London, UK.
    Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene that result in deficiency of the enzyme alpha-galactosidase A. The worldwide incidence of Fabry's disease is reported to be in the range of 1 in 40,000-117,000, although this value may be a significant underestimate given under recognition of symptoms and delayed or missed diagnosis. Deficiency in alpha-galactosidase A causes an accumulation of neutral glycosphingolipids such as globotriaosylceramide (Gb3) in lysosomes within various tissues including the vascular endothelium, kidneys, heart, eyes, skin and nervous system. Read More

    [Postural tachycardia syndrome (PoTS): An up-to-date].
    Rev Med Interne 2018 Jun 13. Epub 2018 Jun 13.
    Service de neurologie, France; Institut National de la santé et de la recherche médicale (Inserm), UMR1048, France.
    Postural tachycardia syndrome (PoTS) is a multifactorial syndrome defined by an increase in heart rate ≥30bpm, within 10minutes of standing (or during a head up tilt test to at least 60°), in absence of orthostatic hypotension. It is associated with symptoms of cerebral hypoperfusion that are worse when upright and improve in supine position. Patients have an intense fatigue with a high incidence on quality of life. Read More

    A Liquid Chromatography-Quadrupole-Time-of-Flight Mass Spectrometric Assay for the Quantification of Fabry Disease Biomarker Globotriaosylceramide (GB3) in Fabry Model Mouse.
    Pharmaceutics 2018 Jun 7;10(2). Epub 2018 Jun 7.
    College of Pharmacy and Institute of Drug Research and Development, Chungnam National University, Daejeon 34134, Korea.
    Fabry disease is a rare lysosomal storage disorder resulting from the lack of gene activity. Globotriaosylceramide (GB3, ceramide trihexoside) is a novel endogenous biomarker which predicts the incidence of Fabry disease. At the early stage efficacy/biomarker study, a rapid method to determine this biomarker in plasma and in all relevant tissues related to this disease simultaneously is required. Read More

    Diagnosis and Treatment of the Cardiovascular Consequences of Fabry Disease.
    QJM 2018 Jun 6. Epub 2018 Jun 6.
    Department of Cardiology, Queen Elizabeth Hospital Birmingham.
    Fabry Disease (FD) has been a diagnostic challenge since it was first recognised in 1898, with patients traditionally suffering from considerable delay before a diagnosis is made. Cardiac involvement is the current leading cause of death in FD. A combination of improved enzyme assays, availability of genetic profiling, together with more organised clinical services for rare diseases, has led to a rapid growth in the prevalence of FD. Read More

    Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients.
    Genet Med 2018 Jun 6. Epub 2018 Jun 6.
    Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
    Purpose: Evaluation standards and treatment initiation timing have been debated for a long time, particularly for late-onset Fabry disease (FD), because of its slow progression. However, early initiation of enzyme replacement therapy (ERT) for FD could be effective in stabilizing the disease progression and potentially preventing irreversible organ damage. We aimed to examine globotriaosylceramide (Gb3) deposits in patients' endomyocardial biopsies to understand the early pathogenesis of FD cardiomyopathy. Read More

    Urinary N-terminal fragment of titin is a marker to diagnose muscular dystrophy in patients with cardiomyopathy.
    Clin Chim Acta 2018 Jun 2;484:226-230. Epub 2018 Jun 2.
    Department of Cardiovascular Medicine, Fukushima Medical University, Fukushima, Japan.
    The differential diagnosis of cardiomyopathy is important. It has been recently reported that urinary titin N (U-TN) is increased in patients with muscular dystrophy (MD), and is associated with muscular damage. We aimed to clarify whether U-TN is useful as a diagnostic tool for distinguishing MD from various cardiomyopathies [e. Read More

    Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age.
    Front Neurol 2018 16;9:336. Epub 2018 May 16.
    Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
    Introduction: A 16-year-old male presented with episodic headaches and a brain magnetic resonance imaging (MRI) that showed multifocal punctate to patchy white matter lesions. The diagnosis of Fabry disease (FD) was suggested upon the finding of significantly reduced plasma alpha-galactosidase A activity (0.62 µmol/L or 13% of normal; normal range ≥ 1. Read More

    Cardiac Phenotype of Prehypertrophic Fabry Disease.
    Circ Cardiovasc Imaging 2018 Jun;11(6):e007168
    Cardiology Department, Barts Heart Centre, London, United Kingdom (S.N., A.A.-G., K.M.-M., S.R., G.C., J.C.M.).
    Background: Fabry disease (FD) is a rare and treatable X-linked lysosomal storage disorder. Cardiac involvement determines outcomes; therefore, detecting early changes is important. Native T1 by cardiovascular magnetic resonance is low, reflecting sphingolipid storage. Read More

    Quantification of sweat gland innervation in patients with Fabry disease: A case-control study.
    J Neurol Sci 2018 Jul 22;390:135-138. Epub 2018 Apr 22.
    Department of Neurology, University of Würzburg, Würzburg, Germany; Fabry Center for Interdisciplinary Therapy (FAZIT) University of Würzburg, Germany.
    Introduction: Hypohidrosis and heat intolerance, frequently reported by men and women with Fabry disease (FD), is thought to be related not only to the deposition of globotriaosylceramide (Gb3) in eccrine sweat glands, but also to reduced sweat gland sympathetic innervation.

    Methods: We performed a case-control study to compare the density of sweat gland innervation between patients with FD and healthy controls by examining lower leg skin punch biopsies. We used a standardized grid of circles superimposed upon the immunofluorescent specimen to create a simple pattern of circles over the sweat gland. Read More

    Awareness of Fabry disease in cardiology: A gap to be filled.
    Rev Port Cardiol 2018 May 22. Epub 2018 May 22.
    Centro Cardiovascular da Universidade de Lisboa (CCUL), Faculdade de Medicina da Universidade de Lisboa, Portugal.
    Introduction: In adults, unexplained left ventricular hypertrophy is usually due to sarcomeric hypertrophic cardiomyopathy (HCM). Fabry disease (FD) is rare but may mimic sarcomeric HCM, and has an adverse prognosis in the absence of specific treatment. We aimed to assess cardiologists' awareness of FD based on data from the Portuguese Registry of Hypertrophic Cardiomyopathy. Read More

    Value of the CHADS-VASc score and Fabry-specific score for predicting new-onset or recurrent stroke/TIA in Fabry disease patients without atrial fibrillation.
    Clin Res Cardiol 2018 May 24. Epub 2018 May 24.
    Department of Internal Medicine I, University Hospital Würzburg, Oberdürrbacher Str. 6, 97080, Würzburg, Germany.
    Objectives: To evaluate potential risk factors for stroke or transient ischemic attacks (TIA) and to test the feasibility and efficacy of a Fabry-specific stroke risk score in Fabry disease (FD) patients without atrial fibrillation (AF).

    Background: FD patients often experience cerebrovascular events (stroke/TIA) at young age.

    Methods: 159 genetically confirmed FD patients without AF (aged 40 ± 14 years, 42. Read More

    Clinical impact of the alpha-galactosidase A gene single nucleotide polymorphism -10C>T: A single-center observational study.
    Medicine (Baltimore) 2018 May;97(21):e10669
    Department of Internal Medicine I, Division of Cardiology and Nephrology and Comprehensive Heart Failure Center Würzburg, University Hospital Würzburg.
    Single nucleotide polymorphisms (SNPs) in the alpha-galactosidase A gene region (GLA) have been discussed as potential cause of symptoms and organ manifestations similarly to those seen in Fabry disease (FD). However, due to scarce data, clinical implications remain limited. The aim of the present study was to investigate the clinical impact of -10C>T SNP in the GLA. Read More

    Hemizygous Fabry disease associated with membranous nephropathy: A rare case report
.
    Clin Nephrol 2018 May 24. Epub 2018 May 24.
    Background: Fabry disease may coexist with various glomerular diseases, including IgA nephropathy, focal segmental glomerulosclerosis, etc. In this study, we report a rare case of Fabry disease associated with membranous nephropathy (MN).

    Case Presentation: A 30-year-old man with nephrotic proteinuria, normal renal function, and no other extrarenal manifestations underwent a renal biopsy in February 2017. Read More

    The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts.
    Mol Genet Metab 2018 Apr 26. Epub 2018 Apr 26.
    French Referral Center for Fabry disease, Division of Medical Genetics and INSERM U1179, University of Versailles, Paris-Saclay University, Montigny, France.
    Background: Fabry disease is caused by a deficiency of the lysosomal enzyme α-galactosidase, resulting in progressive accumulation of globotriaosylceramide (GL-3). The disease can manifest early during childhood and adolescence. Enzyme replacement therapy (ERT) with recombinant human α-galactosidase is the first specific treatment for Fabry disease and has been available in Europe since 2001. Read More

    Electrocardiogram and Imaging: An Integrated Approach to Arrhythmogenic Cardiomyopathies.
    Card Electrophysiol Clin 2018 Jun;10(2):413-429
    Multimodality Cardiac Imaging Section, Policlinico San Donato, San Donato Milanese, Piazza Edmondo Malan, 2, 20097 San Donato Milanese MI, Italy.
    Cardiovascular imaging has radically changed the management of patients with arrhythmogenic cardiomyopathies. This article focuses on the role of echocardiography and MRI in the diagnosis of these structural diseases. Cardiomyopathies with hypertrophic pattern (hypertrophic cardiomyopathy, restrictive cardiomyopathies, amyloidosis, Anderson-Fabry disease, and sarcoidosis), cardiomyopathies with dilated pattern, inflammatory cardiac diseases, and right ventricular arrhythmogenic cardiomyopathy are analyzed. Read More

    Proposed Stages of Myocardial Phenotype Development in Fabry Disease.
    JACC Cardiovasc Imaging 2018 May 11. Epub 2018 May 11.
    Cardiology Department, Barts Heart Centre, London, United Kingdom; Institute of Cardiovascular Science, University College London, London, United Kingdom. Electronic address:
    Objectives: The authors sought to explore the Fabry myocardium in relation to storage, age, sex, structure, function, electrocardiogram changes, blood biomarkers, and inflammation/fibrosis.

    Background: Fabry disease (FD) is a rare, x-linked lysosomal storage disorder. Mortality is mainly cardiovascular with men exhibiting cardiac symptoms earlier than women. Read More

    Tuberculous meningitis: a roadmap for advancing basic and translational research.
    Nat Immunol 2018 Jun;19(6):521-525
    Department of Pathology and Laboratory Medicine, University of Wisconsin-Madison School of Medicine and Public Health, Madison, WI, USA.

    Variable phenotypic presentations of renal involvement in Fabry disease: a case series.
    F1000Res 2018 22;7:356. Epub 2018 Mar 22.
    Renal Services, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, Tyne and Wear , NE7 7DN, UK.
    Fabry disease is an X-linked genetic deficiency in the alpha-galactosidase enzyme resulting in intracellular accumulation of glycosphingolipids and multisystem organ dysfunction. Typically 50% of males and 20% of affected females have renal involvement, ranging from proteinuria or reduced renal function, renal parapelvic cysts and progressive renal disease ultimately requiring transplantation or dialysis. The phenotypic presentation of Fabry disease is incredibly varied and will even vary between family members with the same confirmed genetic mutation. Read More

    Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation.
    Case Rep Cardiol 2018 20;2018:6131083. Epub 2018 Mar 20.
    Department for Cardiovascular Disease, Osijek University Hospital, J. Huttlera 4, 31000 Osijek, Croatia.
    Background: Anderson-Fabry disease is an X-linked inherited disease, which manifests in a different manner depending on gender and genotype. Making a working diagnosis of Anderson-Fabry disease is difficult because of several reasons: (a) that it is a multiorgan disease with wide variety of phenotypes, (b) different timelines of presentation, (c) gender differences, and (d) possible coexistence with other comorbidities. Late-onset/cardiac type of presentation with minimal involvement of other organs can additionally make diagnosis difficult. Read More

    Confocal Microscopic Observations of Vortex Keratopathy in Patients with Amiodarone-Induced Keratopathy and Fabry Disease.
    J Ophthalmol 2018 21;2018:5315137. Epub 2018 Mar 21.
    Department of Ophthalmology, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime 791-0295, Japan.
    Purpose: To compare the morphology of two types of vortex keratopathy: amiodarone-induced keratopathy and the Fabry disease-associated keratopathy.

    Patients And Methods: Eight patients who were receiving oral amiodarone therapy and 3 patients with Fabry disease, a mother and her 2 daughters, were examined by slit-lamp biomicroscopy and confocal microscopy (IVCM) regularly.

    Results: Amiodarone-induced keratopathy developed in 7 of the 8 patients, and it was detected as early as 7 days by IVCM and 14 days by slit-lamp biomicroscopy. Read More

    The beneficial effects of long-term enzyme replacement therapy on cardiac involvement in Japanese Fabry patients.
    Mol Genet Metab 2018 Jun 26;124(2):143-151. Epub 2018 Apr 26.
    Advanced Clinical Research Center, Institute of Neurological Disorders, Furusawa-Miyako 255, Asou-ku, Kawasaki city, Kanagawa Prefecture 215-0026, Japan.
    Fabry disease is a hereditary disorder that occurs due to the reduction or absence of alpha-galactosidase A activity, which leads to cardiac involvement including left ventricular hypertrophy (LVH). Enzyme replacement therapy (ERT) provides better patient outcomes by preventing serious complications. However, there have been very few studies on the long-term effects of ERT on the cardiac manifestations in Japanese Fabry patients. Read More

    Dynamic nuclear envelope phenotype in rats overexpressing mutated human torsinA protein.
    Biol Open 2018 May 8. Epub 2018 May 8.
    Institute for Medical Genetics and Applied Genomics, University of Tuebingen, Calwerstr. 7, 72076 Tuebingen, Germany.
    A three-base-pair deletion in the human gene is causative for the most common form of primary dystonia, the early-onset dystonia type 1 (DYT1 dystonia). The pathophysiological consequences of this mutation are still unknown.To study the pathology of the mutant torsinA (TOR1A) protein, we have generated a transgenic rat line that overexpresses the human mutant protein under the control of the human promoter. Read More

    Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy.
    BMJ Open Respir Res 2018 21;5(1):e000277. Epub 2018 Apr 21.
    University Heart Center, University Hospital Zurich, Zurich, Switzerland.
    Introduction: Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by mutations of gene leading to reduced α-galactosidase activity and resulting in a progressive accumulation of globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosyl-sphingosine (Lyso-Gb3). Plasma Lyso-Gb3 levels serve as a disease severity and treatment monitoring marker during enzyme replacement therapy (ERT).

    Methods: Adult patients with AFD who had yearly pulmonary function tests between 1999 and 2015 were eligible for this observational study. Read More

    Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial.
    Orphanet J Rare Dis 2018 Apr 27;13(1):68. Epub 2018 Apr 27.
    Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC, Australia.
    Background: Fabry disease is frequently characterized by gastrointestinal symptoms, including diarrhea. Migalastat is an orally-administered small molecule approved to treat the symptoms of Fabry disease in patients with amenable mutations.

    Methods: We evaluated minimal clinically important differences (MCID) in diarrhea based on the corresponding domain of the patient-reported Gastrointestinal Symptom Rating Scale (GSRS) in patients with Fabry disease and amenable mutations (N = 50) treated with migalastat 150 mg every other day or placebo during the phase 3 FACETS trial (NCT00925301). Read More

    Development and Analytical Characterization of Pegunigalsidase Alfa, a Chemically Cross-Linked Plant Recombinant Human α-Galactosidase-A for Treatment of Fabry Disease.
    Bioconjug Chem 2018 May 3;29(5):1630-1639. Epub 2018 May 3.
    Protalix Ltd. , 2 Snunit street , POB 455, Carmiel , 2161401 , Israel.
    The current treatment of Fabry disease by enzyme replacement therapy with commercially available recombinant human α-Galactosidase A shows a continuous deterioration of the disease patients. Human recombinant α-Galactosidase A is a homodimer with noncovalently bound subunits and is expressed in the ProCellEx plant cell-based protein expression platform to produce pegunigalsidase alfa. The effect of covalent bonding between two α-Galactosidase A subunits by PEG-based cross-linkers of various lengths was evaluated in this study. Read More

    Long-Term Outcomes of Kidney Transplantation in Fabry Disease.
    Transplantation 2018 Apr 24. Epub 2018 Apr 24.
    Department of Internal Medicine, University Hospital Zurich, Zurich, Switzerland.
    Background: Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene that obliterate or markedly reduce α-galactosidase A activity. This results in the systemic accumulation of its glycosphingolipid substrates in body fluids and organs, including the kidney. Fabry nephropathy can lead to end-stage renal disease requiring kidney transplantation. Read More

    Use of Myocardial T1 Mapping at 3.0 T to Differentiate Anderson-Fabry Disease from Hypertrophic Cardiomyopathy.
    Radiology 2018 Apr 24:172613. Epub 2018 Apr 24.
    From the Toronto Joint Department of Medical Imaging, Toronto General Hospital, University of Toronto, 585 University Ave, 1 PMB-298, Toronto, ON, Canada M5G 2N2 (G.R.K., S.R., P.T., E.T.N., S.M., K.H.); Division of Cardiology, Peter Munk Cardiac Centre, University Health Network, University of Toronto, Toronto, ON, Canada (R.M.I., A.M.C., P.T.); and Fred A. Litwin Centre in Genetic Medicine, University Health Network & Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada (C.F.M., S.W.).
    Purpose To compare left ventricular (LV) and right ventricular (RV) 3.0-T cardiac magnetic resonance (MR) imaging T1 values in Anderson-Fabry disease (AFD) and hypertrophic cardiomyopathy (HCM) and evaluate the diagnostic value of native T1 values beyond age, sex, and conventional imaging features. Materials and Methods For this prospective study, 30 patients with gene-positive AFD (37% male; mean age ± standard deviation, 45. Read More

    [Fabry disease: about an uncommon case].
    Pan Afr Med J 2017 5;28:291. Epub 2017 Dec 5.
    Service de Cardiologie, 3 Hôpital Militaire Laayoune, Maroc.
    We here report the case of a 60-year old patient with congestive heart failure due to Fabry disease-related cardiopathy. This study has offered the opportunity to perform a literature review on cardiopathy related to this disease as well as to highlight the features of cardiac manifestation in Fabry disease. Read More


    Increased resting cerebral blood flow in adult Fabry disease: MRI arterial spin labeling study.
    Neurology 2018 Apr 21;90(16):e1379-e1385. Epub 2018 Mar 21.
    From the Stroke Research Centre, Department of Brain Repair and Rehabilitation (P.P., A.M., I.D., X.G., D.J.W.), UCL Institute of Neurology; Charles Dent Metabolic Unit (A.M., E.M., R.H.L.), National Hospital for Neurology and Neurosurgery, London; Beaumont Hospital and Royal College of Surgeons in Ireland (A.M.), Beaumont, Dublin; Academic Department of Neuroradiology (I.D., X.G.), Department of Brain Repair and Rehabilitation, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London; Department of Neuropsychology (F.B., L.C.), National Hospital for Neurology and Neurosurgery; Department of Biostatistics (F.J.), UCL and University College London Hospitals; Department of Neuroinflammation (C.W.-K.), UCL Institute of Neurology; and Lysosomal Storage Disorders Unit (D.H.), Royal Free Hospital, London, UK.
    Objective: To assess resting cerebral blood flow (CBF) in the whole-brain and cerebral white matter (WM) and gray matter (GM) of adults with Fabry disease (FD), using arterial spin labeling (ASL) MRI, and to investigate CBF correlations with WM hyperintensity (WMH) volume and the circulating biomarker lyso-Gb3.

    Methods: This cross-sectional, case-control study included 25 patients with genetically confirmed FD and 18 age-matched healthy controls. We quantified resting CBF using Quantitative Signal Targeting With Alternating Radiofrequency Labeling of Arterial Regions (QUASAR) ASL MRI. Read More

    In search of a putative imaging biomarker for Fabry disease: Go with the flow?
    Neurology 2018 Apr 21;90(16):721-722. Epub 2018 Mar 21.
    From the J. Philip Kistler Stroke Research Center (A.-K.G., N.S.R.), Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston; and Program in Medical and Population Genetics (A.-K.G.), Broad Institute of MIT and Harvard, Cambridge, MA.

    Treatment in Fabry disease.
    Rev Clin Esp 2018 Apr 13. Epub 2018 Apr 13.
    Grupo de Trabajo de Enfermedades Minoritarias, Sociedad Española de Medicina Interna (SEMI). Electronic address:
    Fabry disease is an X-linked inborn disease caused by deficit of alpha-galactosidaseA. This results in accumulation of glycosphingolipids in all cells and tissues. All males should receive enzyme replacement treatment in case of very low or undetectable levels of alpha-galactosidaseA. Read More

    Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature.
    JIMD Rep 2018 Apr 14. Epub 2018 Apr 14.
    Danish Dementia Research Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
    Fabry disease is a rare progressive X-linked lysosomal storage disorder which leads to neuropathic pain, organ dysfunction and cerebral pathology. Few studies have investigated cognitive impairment in Fabry disease and these previous studies are difficult to compare due to heterogeneous methodological designs and small cohorts. The objective was to investigate the frequency of cognitive impairment in the Danish nationwide cohort of Fabry patients. Read More

    Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.
    Mol Genet Genomic Med 2018 Apr 12. Epub 2018 Apr 12.
    Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, UK.
    Background: The p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease. Read More

    Fabry disease in the Spanish population: observational study with detection of 77 patients.
    Orphanet J Rare Dis 2018 Apr 10;13(1):52. Epub 2018 Apr 10.
    Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur). SERGAS-UVIGO, Vigo, Spain.
    Background: Fabry disease is a multisystemic lysosomal storage disorder caused by the impairment of α-galactosidase A. The incidence of this rare disease is underestimated due to delayed diagnosis. Moreover, the management of the identified subjects is often complicated by the detection of variants of unclear diagnostic interpretation, usually identified in screening studies. Read More

    Early Cardiac Involvement Affects Left Ventricular Longitudinal Function in Females Carrying α-Galactosidase A Mutation: Role of Hybrid Positron Emission Tomography and Magnetic Resonance Imaging and Speckle-Tracking Echocardiography.
    Circ Cardiovasc Imaging 2018 Apr;11(4):e007019
    Departments of Advanced Biomedical Sciences (L.S., M.I., C.N., G.G., A. Ponsiglione, B.T., A.C.) and Public Health (E.R., A. Pisani), University of Naples Federico II, Italy; SDN IRCCS, Naples, Italy (E.N., T.C.D.); and Institute of Biomedicine and Molecular Immunology, National Council of Research, Palermo, Italy (G.D.).
    Background: Hybrid F-fluorodeoxyglucose (FDG) positron emission tomography and magnetic resonance imaging may differentiate mature fibrosis or scar from fibrosis associated to active inflammation in patients with Anderson-Fabry disease, even in nonhypertrophic stage. This study was designed to compare the results of positron emission tomography and magnetic resonance cardiac imaging with those of speckle-tracking echocardiography in heterozygous Anderson-Fabry disease females.

    Methods And Results: Twenty-four heterozygous females carrying α-galactosidase A mutation and without left ventricular hypertrophy underwent cardiac positron emission tomography and magnetic resonance using F-FDG for glucose uptake and 2-dimensional strain echocardiography. Read More

    Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.
    PLoS One 2018 5;13(4):e0193550. Epub 2018 Apr 5.
    Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College Medical School, London, United Kingdom.
    Background: Fabry disease (FD) results from X-linked inheritance of a mutation in the GLA gene, encoding for alpha galactosidase A, and is characterized by heterogeneous clinical manifestations. Two phenotypes have been described "Classic" and "late onset" which cannot be predicted exclusively by genotype. The latter has been considered an attenuated form of the disease often affecting a single organ system commonly the heart. Read More

    Genetics and Gene Therapy of Anderson-Fabry Disease.
    Curr Gene Ther 2018 ;18(2):96-106
    Dipartimento Biomedico di Medicina Interna e Specialistica (Di.Bi.M.I.S), U.O.C.di Medicina Interna con Stroke Care, Università degli Studi di Palermo, Piazza delle Cliniche n.2, 90127, Palermo, Italy.
    Fabry's disease is a genetic disorder of X-linked inheritance caused by mutations in the alpha galactosidase A gene resulting in deficiency of this lysosomal enzyme. The progressive accumulation of glycosphingolipids, caused by the inadequate enzymatic activity, is responsible of organ dysfunction and thus of clinical manifestations. In the presence of a high clinical suspicion, a careful physical examination and specific laboratory tests are required, finally diagnosis of Fabry's disease is confirmed by the demonstration of absence or reduced alpha-galactosidase A enzyme activity in hemizygous men and gene typing in heterozygous females; in fact the performance of enzymatic activity assay alone in women is inconclusive. Read More

    Echocardiographic Assessment of Patients with Fabry Disease.
    J Am Soc Echocardiogr 2018 Jun 29;31(6):639-649.e2. Epub 2018 Mar 29.
    Division of Cardiology, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address:
    Fabry disease is an X-linked lysosomal storage disorder that results from a deficiency of α-galactosidase A. Increased left ventricular wall thickness has been the most commonly described cardiovascular manifestation of the disease. However, a variety of other structural and functional abnormalities have also been reported. Read More

    Non-specific gastrointestinal features: Could it be Fabry disease?
    Dig Liver Dis 2018 May 1;50(5):429-437. Epub 2018 Mar 1.
    Neurological Unit, St. Bassiano Hospital, Bassano del Grappa, Italy. Electronic address:
    Non-specific gastrointestinal symptoms, including pain, diarrhoea, nausea, and vomiting, can be the first symptoms of Fabry disease. They may suggest more common disorders, e.g. Read More

    Targeting Glucosylceramide Synthesis in the Treatment of Rare and Common Renal Disease.
    Semin Nephrol 2018 Mar;38(2):183-192
    Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan. Electronic address:
    Sphingolipids, including ceramides, glycosphingolipids, sphingomyelin, and sphingosine-1-phosphate, have been recognized as important molecules that regulate critical cellular functions. Although originally studied in the context of lysosomal storage diseases, the roles of these compounds in more common disorders involving metabolism, vascular disease, and aberrant growth has been the focus of recent studies, including in disorders that affect the kidneys. These efforts have led to new insights into Fabry disease, a classic disorder of lysosomal function that results in renal failure as well as in more common renal diseases including diabetic nephropathy and polycystic kidney disease. Read More

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