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    3998 results match your criteria Angiokeratoma Corporis Diffusum Fabry Syndrome

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    Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
    Clin Chim Acta 2018 Feb 21. Epub 2018 Feb 21.
    Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Firenze, Italy; Department of NEUROFARBA, University of Florence, Firenze, Italy. Electronic address:
    Background: Allelic heterogeneity is an important feature of the GLA gene for which almost 900 known genetic variants have been discovered so far. Pathogenetic GLA variants cause alpha-galactosidase A (α-Gal A) enzyme deficiency leading to the X-linked lysosomal storage disorder Fabry disease (FD). Benign GLA intronic and exonic variants (e. Read More

    Antibody Epitope of human α-Galactosidase A revealed by affinity-mass spectrometry: A basis for reversing immunoreactivity in enzyme replacement therapy of Fabry's Disease.
    ChemMedChem 2018 Feb 23. Epub 2018 Feb 23.
    Universit�t Konstanz, Department of Chemistry, Universit�tsstr. 10, Laboratory of Analytical Chemistry, 78457, Konstanz, GERMANY.
    Alpha-galactosidase (αGal) is a lysosomal enzyme that hydrolyses the alphagalactosyl moiety from glycosphingo-lipids. Mutations in the αGal genes lead to defect enzyme resulting in substrate accumulation and pathophysiology. The deficiency of αGal, called Fabry's Disease (FD), belongs to the lysosomal storage diseases. Read More

    Chloroquine-induced cardiomyopathy: a reversible cause of heart failure.
    ESC Heart Fail 2018 Feb 20. Epub 2018 Feb 20.
    Division of Cardiology, Department of Medicine, University of Alberta, Edmonton, Alberta, Canada.
    Chloroquine (CQ) and hydroxychloroquine (HCQ) are anti-rheumatic medications frequently used in the treatment of connective tissue disorders. We present the case of a 45-year-old woman with CQ-induced cardiomyopathy leading to severe heart failure. Electrocardiographic abnormalities included bifascicular block, while structural disease consisted of severe biventricular and biatrial hypertrophy. Read More

    Comparison of left atrial size and function in hypertrophic cardiomyopathy and in Fabry disease with left ventricular hypertrophy.
    Echocardiography 2018 Feb 19. Epub 2018 Feb 19.
    Asociación Argentina de estudio de enfermedad de Fabry y otras enfermedades lisosomales.
    Background: Fabry disease (FD) and hypertrophic cardiomyopathy (HCM) are two diseases with a different pathophysiology, both cause left ventricular hypertrophy (LVH) and myocardial fibrosis. Although remodeling and systolic dysfunction of the left atrium (LA) are associated with atrial fibrillation and stroke in HCM, changes in the size and function of the LA have not been well studied in FD with LVH.

    Methods: The following groups were studied prospectively, and their respective findings compared: 19 patients with non-obstructive HCM (Group I), 20 patients with a diagnosis of Fabry cardiomyopathy (Group II), and 20 normal subjects matched for sex and age (Group III). Read More

    Adaptive pathway development for Fabry disease: a clinical approach.
    Drug Discov Today 2018 Feb 15. Epub 2018 Feb 15.
    Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:
    Fabry disease (FD) is a rare X-chromosome-linked lysosomal storage disorder. Although initial expectations of enzyme replacement therapy (ERT) were high, it is now clear that real-world effectiveness is disappointing and evidence gathering has been inadequate. In retrospect, development of ERT for FD had several shortcomings. Read More

    Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.
    J Med Genet 2018 Feb 7. Epub 2018 Feb 7.
    Department of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands.
    Background: Two recombinant enzymes (agalsidase alfa 0.2 mg/kg/every other week and agalsidase beta 1.0 mg/kg/every other week) have been registered for the treatment of Fabry disease (FD), at equal high costs. Read More

    Signatures of Altered Gene Expression in Dorsal Root Ganglia of a Fabry Disease Mouse Model.
    Front Mol Neurosci 2017 25;10:449. Epub 2018 Jan 25.
    Division of Physiology, Department of Physiology and Medical Physics, Medical University of Innsbruck, Innsbruck, Austria.
    Fabry disease is an X-linked lysosomal storage disorder with involvement of the nervous system. Accumulation of glycosphingolipids within peripheral nerves and/or dorsal root ganglia results in pain due to small-fiber neuropathy, which affects the majority of patients already in early childhood. The α-galactosidase A deficient mouse proved to be an adequate model for Fabry disease, as it shares many symptoms including altered temperature sensitivity and pain perception. Read More

    Characterization of drug-neutralizing antibodies in patients with Fabry disease during infusion.
    J Allergy Clin Immunol 2018 Feb 5. Epub 2018 Feb 5.
    Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology, University Hospital Muenster, Muenster, Germany. Electronic address:
    In patients with Fabry disease, neutralizing anti-drug antibodies were identified as IgG4 isotypes. The determination of antibody titers during infusions indicated that high dosages of enzyme overcome anti-drug antibody titers, necessitating individually tailored dose adjustment. Read More

    The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients.
    JIMD Rep 2018 Jan 30. Epub 2018 Jan 30.
    Lysosomal Storage Disorders Unit, London, UK.
    Fabry disease, a lysosomal storage disorder, is a rare inborn error of metabolism caused by deficiency of the enzyme alpha galactosidase A and resulting accumulation of globotriaosylceramide. The symptoms of Fabry disease are heterogeneous including renal failure, cardiac hypertrophy, and stroke and may not be well recognized by non-specialist physicians. Patients with milder, later onset of disease often have a delay in diagnosis. Read More

    Alpha galactosidase A activity in Parkinson's disease.
    Neurobiol Dis 2018 Apr 2;112:85-90. Epub 2018 Feb 2.
    Translational Sciences, Sanofi R&D, Framingham, MA, USA.
    Glucocerebrosidase (GCase, deficient in Gaucher disease) enzymatic activity measured in dried blood spots of Parkinson's Disease (PD) cases is within healthy range but reduced compared to controls. It is not known whether activities of additional lysosomal enzymes are reduced in dried blood spots in PD. To test whether reduction in lysosomal enzymatic activity in PD is specific to GCase, we measured GCase, acid sphingomyelinase (deficient in Niemann-Pick disease types A and B), alpha galactosidase A (deficient in Fabry), acid alpha-glucosidase (deficient in Pompe) and galactosylceramidase (deficient in Krabbe) enzymatic activities in dried blood spots of PD patients (n = 648) and controls (n = 317) recruited from Columbia University. Read More

    In vivo 3-dimensional photoacoustic imaging of the renal vasculature in preclinical rodent models.
    Am J Physiol Renal Physiol 2017 Dec 20. Epub 2017 Dec 20.
    Medical Physics and Biomedical Engineering, University College London.
    Non-invasive imaging of the kidney vasculature in preclinical murine models is important for studying renal development, diseases and evaluating new therapies, but is challenging to achieve using existing imaging modalities. Photoacoustic imaging is a promising new technique that is particularly well suited to visualising the vasculature and could provide an alternative to existing preclinical imaging methods for studying renal vascular anatomy and function. To investigate this, an all-optical Fabry-Perot based photoacoustic scanner was used to image the abdominal region of mice. Read More

    Fabry Disease: prevalence of affected males and heterozygotes with pathogenicmutations identified by screening renal, cardiac and stroke clinics, 1995-2017.
    J Med Genet 2018 Jan 12. Epub 2018 Jan 12.
    Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
    Background: Fabry Disease (FD), an X linked lysosomal storage disease due to pathogenic α-galactosidase A () mutations, results in two major subtypes, the early-onset Type 1 'Classic' and the Type 2 'Later-Onset' phenotypes. To identify previously unrecognised patients, investigators screened cardiac, renal and stroke clinics by enzyme assays. However, some screening studies did not perform confirmatorymutation analyses, and many included recently recognised 'benign/likely-benign' variants, thereby inflating prevalence estimates. Read More

    Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease.
    Mol Genet Metab Rep 2018 Mar 22;14:68-72. Epub 2017 Dec 22.
    Advanced Clinical Research Center, Institute of Neurological Disorders, Shin-Yurigaoka General Hospital, Kawasaki, Kanagawa, Japan.
    Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A), leading to the progressive accumulation of glycosphingolipids. Classical hemizygous males usually present symptoms, including pain and paresthesia in the extremities, angiokeratoma, hypo- or anhidrosis, abdominal pain, cornea verticillata, early stroke, tinnitus, and/or hearing loss, during early childhood or adolescence. Moreover, proteinuria, renal impairment, and cardiac hypertrophy can appear with age. Read More

    Default mode network modifications in Fabry disease: A resting-state fMRI study with structural correlations.
    Hum Brain Mapp 2018 Jan 9. Epub 2018 Jan 9.
    Department of Advanced Biomedical Sciences, University "Federico II,", Naples, Italy.
    Aim of the study was to evaluate the presence of Default Mode Network (DMN) modifications in Fabry Disease (FD), and their possible correlations with structural alterations and neuropsychological scores. Thirty-two FD patients with a genetically confirmed diagnosis of classical FD (12 males, mean age 43.3 ± 12. Read More

    Inner ear involvement in fabry disease: Clinical and audiometric evaluation of a large cohort of patients followed in a reference centre.
    Eur J Med Genet 2018 Jan 4. Epub 2018 Jan 4.
    Department of Otorhinolaryngology, Reference Centre on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimarães, Portugal.
    Background: Fabry disease (FD) is a lysosomal storage disorder (LSD) that involves the cochleovestibular system. Tinnitus and progressive sensorineural hearing loss are frequent complains. A stabilization of hearing function has been reported with enzyme replacement therapy (ERT). Read More

    Simple and efficient screening of patients with Fabry disease with high resolution melting.
    Clin Biochem 2018 Jan 4. Epub 2018 Jan 4.
    Post-Graduation Program on Genetics and Molecular Biology, UFRGS, Porto Alegre, RS 91501-970, Brazil; Gene Therapy Center, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS 90035-903, Brazil; Department of Genetics, UFRGS, Porto Alegre, RS 91501-970, Brazil. Electronic address:
    Background: Fabry disease (FD [MIM: 301500]) is a disorder caused by mutations in the alpha-galactosidase gene (GLA), which presents great allelic heterogeneity. The development of fast screening methods may reduce costs and length of diagnosis, being particularly important for screening programs of high-risk female patients. Therefore, the purpose of this study was to develop a pre-sequencing genetic screening method based on high resolution melting (HRM) analysis. Read More

    Genetic variants associated with Fabry disease progression despite enzyme replacement therapy.
    Oncotarget 2017 Dec 18;8(64):107558-107564. Epub 2017 Nov 18.
    Department of Medical and Surgical Sciences Pediatric Unit, Magna Graecia University, Catanzaro, Italy.
    Enzyme replacement therapy (ERT) has been widely used for the treatment of Fabry disease, a rare X-linked recessive disorder due to absent or reduced activity of lysosomal enzyme α-galactosidase A. It is still unclear why some patients under ERT show disease progression typically with renal, cardiovascular and cerebrovascular dysfunctions. Here, we investigated the involvement of drug absorption, distribution, metabolism, and excretion gene variants in response variability to ERT, genotyping 37 patients with the Affymetrix Drug Metabolizing Enzyme and Transporters (DMET) Plus microarray. Read More

    Globotriaosylsphingosine (Lyso-Gb) as a biomarker for cardiac variant (N215S) Fabry disease.
    J Inherit Metab Dis 2018 Jan 2. Epub 2018 Jan 2.
    University Hospitals of Birmingham NHS Foundation Trust, B15 2TH, Birmingham, UK.
    Fabry disease (FD) is a multi-systemic X-linked lysosomal disorder caused by the deficient activity of α-galactosidase-A enzyme, which leads to accumulation of glycosphingolipids in various body tissues. The N215S mutation is a known variant of FD, with a late onset cardiac phenotype. Consensus guidelines acknowledged the use of globotriaosylsphingosine (Lyso-Gb) as a diagnostic marker for classical FD but its utility for cardiac variant FD is not clear. Read More

    Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.
    Mol Genet Metab 2018 Feb 22;123(2):76-84. Epub 2017 Dec 22.
    Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:
    Background: In patients suspected of a lipid storage disorder (sphingolipidoses, lipidoses), confirmation of the diagnosis relies predominantly on the measurement of specific enzymatic activities and genetic studies. New UPLC-MS/MS methods have been developed to measure lysosphingolipids and oxysterols, which, combined with chitotriosidase activity may represent a rapid first tier screening for lipid storage disorders.

    Material And Methods: A lysosphingolipid panel consisting of lysoglobotriaosylceramide (LysoGb3), lysohexosylceramide (LysoHexCer: both lysoglucosylceramide and lysogalactosylceramide), lysosphingomyelin (LysoSM) and its carboxylated analogue lysosphingomyelin-509 (LysoSM-509) was measured in control subjects and plasma samples of predominantly untreated patients affected with lipid storage disorders (n=74). Read More

    Synthesis of (3S,4S,5S)-trihydroxylpiperidine derivatives as enzyme stabilizers to improve therapeutic enzyme activity in Fabry patient cell lines.
    Eur J Med Chem 2018 Jan 12;144:626-634. Epub 2017 Dec 12.
    Genomics Research Center, Academia Sinica, 128, Academia Road, Section 2, Nankang, Taipei 115, Taiwan; Department of Chemistry, National Cheng-Kung University, 1, University Road, Tainan 701, Taiwan. Electronic address:
    A series of 3S,4S,5S-trihydroxylated piperidines bearing structural diversity at C-2 or C-6 positions has been synthesized and tested to determine their ability to stabilize the activity of recombinant human α-Galactosidase A (rh-α-Gal A). Hit molecules were identified by rapid inhibitory activity screening, and then further investigated for their ability to protect this enzyme from thermo-induced denaturation and enhance its activity in Fabry patient cell lines. Our study resulted in the identification of a new class of small molecules as enzyme stabilizers for the potential treatment of Fabry disease. Read More

    Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy.
    Clin Exp Nephrol 2017 Dec 29. Epub 2017 Dec 29.
    Specialty Medical Affairs Group, Medical Affairs, Sumitomo Dainippon Pharma Co., Ltd., 17-10, Kyobashi 1-Chome, Chuo-ku, Tokyo, 104-0031, Japan.
    Background: Recently, globotriaosylsphingosine (lyso-Gb3) has attracted interest as a biomarker of Fabry disease. However, little is known regarding its utility for the evaluation of the therapeutic efficacy.

    Method: We measured plasma lyso-Gb3 concentration in Japanese healthy subjects and Fabry patients by means of liquid chromatography-tandem mass spectrometry (LC-MS/MS). Read More

    In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease.
    J Vis Exp 2017 Dec 20(130). Epub 2017 Dec 20.
    Albrecht-Kossel-Institute, University Rostock Medical Center; Centogene AG.
    The use of personalized medicine to treat rare monogenic diseases like lysosomal storage disorders (LSDs) is challenged by complex clinical trial designs, high costs, and low patient numbers. Hundreds of mutant alleles are implicated in most of the LSDs. The diseases are typically classified into 2 to 3 different clinical types according to severity. Read More

    IgG4-related disease with possible myocardial involvement.
    Reumatol Clin 2017 Dec 22. Epub 2017 Dec 22.
    Servicio de Medicina Interna, Hospital Universitari General de Catalunya, Universitat Internacional de Catalunya, Sant Cugat del Vallés, Barcelona, España.
    IgG4-related disease is characterized by mass lesions, a dense lymphoplasmacytic infiltrate with immunohistochemical positivity for IgG4, storiform fibrosis and, frequently, elevated serum IgG4 levels. It can be multisystemic; however, myocardial involvement, which is objectively determined by imaging tests, has not been described in the medical literature. We report the case of a man with IgG4-related disease with possible myocardial involvement, detected by cardiac magnetic resonance. Read More

    Investigation of correlation of urinary globotriaosylceramide (Gb3) levels with markers of renal function in patients with Fabry disease.
    Clin Chim Acta 2018 Mar 21;478:62-67. Epub 2017 Dec 21.
    Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil; Curso de Especialização em Análises Clínicas, Faculdade de Farmácia, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Farmacêuticas, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil. Electronic address:
    Fabry disease (FD) is a disorder that results from mutations of hydrolase α-galactosidase A. The enzymatic defect leads to accumulation of globotriaosylceramide (Gb3) in the kidney. Substrate deposition is related to tissue damage in FD, but the relation of urinary Gb3 levels in patients and the renal function markers remain not completely understood. Read More

    Fabry disease and its cardiac involvement.
    J Gen Fam Med 2017 Oct 8;18(5):225-229. Epub 2017 May 8.
    Department of Cardiology and GeriatricsKochi Medical SchoolKochi UniversityKochiJapan.
    Fabry disease (FD) is an X-linked lysosomal storage disorder that results from a deficiency of α-galactosidase A activity. This enzymatic defect leads to the progressive accumulation of glycosphingolipids throughout the body and causes multisystemic problems including neurological, ocular, skin, renal, and cardiac manifestations in classical type of FD. The majority of patients with this disease have cardiac involvement that is mainly manifested as left ventricular hypertrophy (LVH). Read More

    Screening for Fabry Disease in Kidney Disease: a Cross-Sectional Study in Males and Females.
    Kidney Blood Press Res 2017 14;42(6):1258-1265. Epub 2017 Dec 14.
    Federal University of Juiz de Fora, Juiz de Fora, Brazil.
    Background/aims: Evaluate the prevalence of Fabry disease in men and women with kidney disease; and observe the presence and importance of the main signs and symptoms in patients with kidney disease.

    Methods: A cross-sectional analysis of secondary data from a multicenter project of Clinical and Epidemiological Analysis of Fabry Disease in 854 Dialysis Centers. A total of 36,442 patients underwent the questionnaire and algorithm; of them, 28,284 were discarded for not presenting signs and symptoms of Fabry disease, while the other 8,087 submitted to blood collection and analysis. Read More

    Low frequency of Fabry disease in patients with common heart disease.
    Genet Med 2017 Oct 26. Epub 2017 Oct 26.
    Amicus Therapeutics Inc., Cranbury, New Jersey, USA.
    PurposeTo test the hypothesis that undiagnosed patients with Fabry disease exist among patients affected by common heart disease.MethodsGlobotriaosylceramide in random whole urine using tandem mass spectroscopy, α-galactosidase A activity in dried blood spots, and next-generation sequencing of pooled or individual genomic DNA samples supplemented by Sanger sequencing.ResultsWe tested 2,256 consecutive patients: 852 women (median age 65 years (19-95)) and 1,404 men (median age 65 years (21-92)). Read More

    Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.
    J Hum Genet 2018 Jan 15;63(1):1-8. Epub 2017 Nov 15.
    Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
    Many female carriers of Fabry disease are likely to develop severe morbidity and mortality. However, by our own estimation, around 80% of female newborns are missed by our current enzyme-based screening approach. Our team's aim was to develop an improved cost-effective screening method that is able to detect Fabry disease among female newborns. Read More

    Detection of Urinary Mulberry Bodies Leads to Diagnosis of Fabry Cardiomyopathy: A Simple Clue in the Urine Sediment.
    Circ Heart Fail 2017 Dec;10(12)
    From the Department of Cardiovascular, Renal and Metabolic Medicine (T.Y., R.T., T.Y., N.N., T.M.) and Department of Medical Genetics, Liberal Arts and Science (A.I., A.S.), Sapporo Medical University School of Medicine, Japan; and Department of Clinical Nephroscience, Niigata University Graduate School of Medical and Dental Sciences, Japan (H.M.).

    Fabry disease under enzyme replacement therapy-new insights in efficacy of different dosages.
    Nephrol Dial Transplant 2017 Nov 23. Epub 2017 Nov 23.
    Department of Internal Medicine I, Divisions of Cardiology and Nephrology, Comprehensive Heart Failure Center, Fabry Center for Interdisciplinary Therapy (FAZIT), University Hospital and University of Würzburg, Würzburg, Germany.
    Background: Fabry patients on reduced dose of agalsidase-beta or after switch to agalsidase-alfa show a decline in estimated glomerular filtration rate (eGFR) and an increase of the Mainz Severity Score Index.

    Methods: In this prospective observational study, we assessed end-organ damage and clinical symptoms in 112 patients who had received agalsidase-beta (1.0 mg/kg) for >1 year, who were (i) non-randomly assigned to continue this treatment regime (regular-dose group, n = 37); (ii) received a reduced dose of agalsidase-beta and subsequent switch to agalsidase-alfa (0. Read More

    Living with a rare disorder: a systematic review of the qualitative literature.
    Mol Genet Genomic Med 2017 11 23;5(6):758-773. Epub 2017 Jul 23.
    Centre for Rare Disorders, Oslo University Hospital, Rikshospitalet, P.B. 4950 Nydalen, Oslo, 0424, Norway.
    Background: Individuals with rare diseases may face challenges that are different from those experienced in more common medical conditions. A wide range of different rare conditions has resulted in a myriad of studies investigating the specificities of the diagnosis in focus. The shared psychological experiences of individuals with a rare condition, however, have not been reviewed systematically. Read More

    Clinical-Pathological Conference Series from the Medical University of Graz : Case No 153: A 55-year-old woman with atypical multiple sclerosis and irritable bowel syndrome.
    Wien Klin Wochenschr 2018 Feb 21;130(3-4):151-160. Epub 2017 Nov 21.
    Division of Gastroenterology and Hepatology, Department of Internal Medicine, Medical University of Graz, Auenbruggerplatz 15, 8036, Graz, Austria.

    Cardiac and renal dysfunction is associated with progressive hearing loss in patients with Fabry disease.
    PLoS One 2017 21;12(11):e0188103. Epub 2017 Nov 21.
    Department of Oto-Rhino-Laryngology, Plastic, Aesthetic and Reconstructive Head and Neck Surgery, Comprehensive Hearing Center, University Hospital Würzburg, Würzburg, Germany.
    Background: Fabry disease (FD) is an X-linked recessive hereditary lysosomal storage disorder which results in the accumulation of globotriaosylceramid (Gb3) in tissues of kidney and heart as well as central and peripheral nervous system. Besides prominent renal and cardiac organ involvement, cochlear symptoms like high-frequency hearing loss and tinnitus are frequently found with yet no comprehensive data available in the literature.

    Objective: To examine hearing loss in patients with FD depending on cardiac and renal function. Read More

    Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events.
    Mol Genet Metab Rep 2018 Mar 9;14:31-35. Epub 2017 Nov 9.
    Medical Genetics Service HCPA/Department of Genetics UFRGS and INAGEMP, Porto Alegre, Brazil.
    This is a retrospective analysis of Fabry Outcome Survey data from children/adults ( = 677) receiving agalsidase alfa enzyme replacement therapy for a median of 3 years, examining cerebrovascular, cardiac, and renal morbidity endpoints separately. Cardiac events occurred at younger ages than cerebrovascular or renal events, cerebrovascular events were more frequent in females than males, and males were more likely to experience cardiac and renal events at a younger age than females. Read More

    Parkinson's disease prevalence in Fabry disease: A survey study.
    Mol Genet Metab Rep 2018 Mar 9;14:27-30. Epub 2017 Nov 9.
    Department of Neurology, Columbia University Medical Center, 710 W. 168th St., New York, NY 10032, United States.
    Recent research has suggested a possible link between Parkinson's disease (PD) and Fabry disease. To test this relationship, we administered a self-report and family history questionnaire to determine the prevalence of PD in Fabry disease patients and family members with likely pathogenic alpha-galactosidase A (GLA) mutations. A total of 90 Fabry patients (77 from the online survey and 13 from the Icahn School of Medicine at Mount Sinai (ISMMS)) were included in the analysis. Read More

    Small fiber neuropathy: Diagnosis, causes, and treatment.
    Joint Bone Spine 2017 Nov 16. Epub 2017 Nov 16.
    Département de médecine interne, hôpital Lariboisière, université Paris Diderot, AP-HP, 2, rue Ambroise-Paré, 75010 Paris, France. Electronic address:
    Small fiber neuropathy, which affects the sensory Aδ and C fibers, is now a major diagnostic and therapeutic challenge. Nearly 7% of the general population have chronic neuropathic pain responsible for severe quality-of-life impairments. Awareness must therefore be raised among clinicians of the somatosensory and autonomic symptoms that can reveal small fiber neuropathy, appropriate diagnostic investigations, most common causes, and best treatment options for each patient profile. Read More

    Lysosomal storage diseases.
    Transl Sci Rare Dis 2017 May 25;2(1-2):1-71. Epub 2017 May 25.
    Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy. Read More

    Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.
    J Inherit Metab Dis 2017 Nov 15. Epub 2017 Nov 15.
    Neurological Unit, St. Bassiano Hospital, Via dei Lotti, 40, 36061, Bassano del Grappa, Italy.
    Background: Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) to diagnose LSDs and permit early intervention to prevent irreversible impairment or severe disability. We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases. Read More

    Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.
    J Stroke Cerebrovasc Dis 2018 Mar 11;27(3):575-582. Epub 2017 Nov 11.
    Academia de Medicina, Buenos Aires, Argentina.
    Background: Fabry disease (FD) is an underdiagnosed cause of stroke in young adults, but the frequency of this association is largely unknown. We estimated the prevalence of FD in a nationwide cohort of young adults who had stroke and transient ischemic attack (TIA) in Argentina.

    Methods: This was a prospective, multicenter study of stroke and FD in young adults (18-55 years) conducted in Argentina between 2011 and 2015. Read More

    Native Treference values for nonischemic cardiomyopathies and populations with increased cardiovascular risk: A systematic review and meta-analysis.
    J Magn Reson Imaging 2017 Nov 13. Epub 2017 Nov 13.
    Department of Radiology, University of Groningen, University Medical Center Groningen, the Netherlands.
    Background: Although cardiac MR and Tmapping are increasingly used to diagnose diffuse fibrosis based cardiac diseases, studies reporting Tvalues in healthy and diseased myocardium, particular in nonischemic cardiomyopathies (NICM) and populations with increased cardiovascular risk, seem contradictory.

    Purpose: To determine the range of native myocardial Tvalue ranges in patients with NICM and populations with increased cardiovascular risk.

    Study Type: Systemic review and meta-analysis. Read More

    Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy.
    Swiss Med Wkly 2017 Nov 9;147:w14517. Epub 2017 Nov 9.
    Service of Genetic Medicine, Lausanne University Hospital, Switzerland.
    Background: Previous cross-sectional studies reported a high prevalence of ascending aorta dilations/aneurysms in male adults with Fabry disease, independently of cardiovascular risk factors.

    Aims Of The Study: To characterise the remodelling of the ascending aorta in classic Fabry disease under long-term enzyme replacement therapy.

    Methods: Diameter of the ascending aorta was measured with magnetic resonance imaging at the sino-tubular junction (STJ), and proximal (pAsAo), and distal ascending aorta (dAsAo) at baseline, and after 5 and 10 years of enzyme replacement therapy in 15 adult Fabry patients (10 males; 5 females). Read More

    Priapism in a Fabry disease mouse model is associated with upregulated penile nNOS and eNOS expression.
    J Inherit Metab Dis 2017 Nov 6. Epub 2017 Nov 6.
    Institute of Metabolic Disease, Baylor Research Institute, 3812 Elm Street, Dallas, TX, 75226, USA.
    Fabry disease is a glycosphingolipidosis caused by deficient activity of α-galactosidase A; it is one of a few diseases that are associated with priapism, an abnormal prolonged erection of the penis. The goal of this study was to investigate the pathogenesis of Fabry disease-associated priapism in a mouse model of the disease. We found that Fabry mice develop late-onset priapism. Read More

    Fabry disease: Review and experience during newborn screening.
    Trends Cardiovasc Med 2017 Oct 20. Epub 2017 Oct 20.
    Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; Institute of Clinical Medicine and Faculty of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address:
    Fabry disease (FD) is an X-linked lysosomal storage disease and is the result of mutation in the α-Galactosidase A gene; such mutations cause a deficiency in α-Galactosidase A enzyme and an accumulation of glycosphingolipid in tissue. Affected males with classic FD have little or no enzyme activity and have an early onset of symptoms and signs, including acroparesthesias, hypohidrosis, angiokeratomas, gastrointestinal dysfunction and/or a characteristic corneal dystrophy during childhood/adolescence. Males with late-onset FD who have residual enzyme activity develop progressive multi-systemic involvement that leads to renal failure and hypertrophic cardiomyopathy, as well as cerebrovascular disease; these events mostly occur during the fourth to seventh decades of life. Read More

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