%D9%85%D8%B1%D8%B6_%D9%81%D8%A7%D8%A8%D8%B1%D9%8AMalaltia_de_FabryCategory:Fabry_diseaseMorbus_FabryFabry_diseaseEnfermedad_de_Fabry%D8%A8%DB%8C%D9%85%D8%A7%D8%B1%DB%8C_%D9%81%D8%A7%D8%A8%D8%B1%DB%8CFabryn_tautiMaladie_de_Fabry%D7%9E%D7%97%D7%9C%D7%AA_%D7%A4%D7%91%D7%A8%D7%99Malattia_di_Fabry%E3%83%95%E3%82%A1%E3%83%96%E3%83%AA%E3%83%BC%E7%97%85%D0%A4%D0%B0%D0%B1%D1%80%D0%B8_%D0%B1%D0%BE%D0%BB%D0%B5%D1%81%D1%82Ziekte_van_FabryChoroba_Fabry%E2%80%99egoDoen%C3%A7a_de_Fabry%D0%91%D0%BE%D0%BB%D0%B5%D0%B7%D0%BD%D1%8C_%D0%A4%D0%B0%D0%B1%D1%80%D0%B8Fabryjeva_bolezenAnderson-Fabrys_sjukdomFabry_hastal%C4%B1%C4%9F%C4%B1%D9%81%DB%8C%D8%A8%D8%B1%DB%8C_%D8%A8%DB%8C%D9%85%D8%A7%D8%B1%DB%8CQ615645%E6%B3%95%E5%B8%83%E7%91%9E%E6%B0%8F%E7%97%87
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Gerald Uhlig-RomeroDegradation pathway of sphingolipids, including diseasesOpen Label Extension of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Every 4 Weeks in Adult Fabry Disease PatientsEvaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry DiseaseFabry : National Initiative of ScreeningCanadian Fabry Disease Initiative (CFDI) National RegistryThe Fabrazyme® and Arbs and ACE Inhibitor Treatment (FAACET) StudyOpen-Label Phase 3 Long-Term Safety Study of MigalastatOphthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients.Viennese Prevalence Study of Anderson-Fabry DiseaseSafety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry DiseaseA Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry DiseaseMigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational StudyStudy to Collect Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A ActivityReplagal Enzyme Replacement Therapy for Children With Fabry DiseaseImpact of Agalsidase Alfa Therapy on Cardiac funcTION in Patients With Fabry's CardiomyopathyPrevalence and Characteristics of Fabry Disease (FD) in Patients With Stroke or Small Fiber NeuropathySafety and Effect of Oral RVX000222 in Subjects With Fabry DiseasePhysician Initiated Expanded Access Request for Migalastat in Individual Patients With Fabry DiseaseMigalastat Food Effect StudyMyocardial Affectation in Patients With Fabry Disease Without Phenotypic Manifestation. Diagnostic Value of BiomarkersSafety Study of Replagal® Therapy in Children With Fabry DiseaseA Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry DiseaseAndrogenetic Alopecia in Fabry DiseaseEpidemiological Study of Fabry Disease in Taiwan Young Stroke PatientsExtension Study of 1 mg/kg Pegunigalsidase Alfa in Patients With Fabry DiseaseSafety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years)Open-Label, Study Of Efficacy and Safety Of AVR-RD-01 for Treatment -Naive Subjects With Classic Fabry DiseaseEfficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry DiseaseKidney Information Network for Disease Research and EducationFabry and Cardiomyopathy (FaCard)Prevalence of Fabry Disease in a Defined Population at Risk - Patients Formerly Diagnosed With Multiple SclerosisStroke in Young Fabry Patients (sifap1): Frequency of Fabry Disease in Young Stroke PatientsScreening for Fabry Disease in Renal TransplantationPre-Clinical White Matter Changes and Associated Connectivity Effects in Fabry DiseaseDetection of Fabry Disease in Chronic Renal Failure Patients in Area Provence - Alpes - Côte d'AzurBiomarker for Patients With Fabry DiseasePulmonary Disease and Exercise Tolerance in Boys With Fabry DiseaseThis Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes.The Efficacy and Safety of Switch Between Agalsidase Beta to Agalsidase Alfa for Enzyme Replacement in Patients With Anderson-Fabry Disease
P1050
P2293
CG1251CG1533GM00107GM00636GM00881GM00882GM01068GM02769GM02771GM02775GM04391IBMS-iPSC-025-03STR-I-171-GLAWG0132WG0160WG0167WG0223WG0330WG0386WG0555WG0571HPS1632HPS2108HPS2109HPS2110HPS2111HPS2112HPS2113HPS3284HPS3285HPS3286HPS3287HPS3288HPS3289IBMS-iPSC-024-03IBMS-iPSC-026-02IMFE1INSAi002-AKSBCi002-A-1
P5166
P828
Fabry disease: recent advances in pathology, diagnosis, treatment and monitoringEarly diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panelPain management strategies for neuropathic pain in Fabry disease--a systematic reviewA phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studiesFabry nephropathy: a review - how can we optimize the management of Fabry nephropathy?Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapyUpdate on role of agalsidase alfa in management of Fabry disease.Quality of life in patients with Fabry disease: a systematic review of the literature.The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense MutationsEnzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies.Cardiac abnormalities in Anderson-Fabry disease and Fabry's cardiomyopathy.Fibrosis: a key feature of Fabry disease with potential therapeutic implicationsDifficulties and barriers in diagnosing Fabry disease: what can be learnt from the literature?Synthesis of (3S,4S,5S)-trihydroxylpiperidine derivatives as enzyme stabilizers to improve therapeutic enzyme activity in Fabry patient cell lines.Translational Aspects of Sphingolipid Metabolism in Renal Disorders.Fabry diseaseOphthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients.Viennese Prevalence Study of Anderson-Fabry DiseaseMigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational StudyPrevalence and Characteristics of Fabry Disease (FD) in Patients With Stroke or Small Fiber NeuropathyPhysician Initiated Expanded Access Request for Migalastat in Individual Patients With Fabry DiseasePre-Clinical White Matter Changes and Associated Connectivity Effects in Fabry DiseaseA Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding
P921
Q1510029-b29eeb62-49e5-d5de-3164-60af1c5a1665Q44017390-7E3B1E54-5784-437D-8651-E2FCAF5E7969Q61905013-4A08351A-CD70-4937-8771-1EE1A2BB8160Q61918311-39D62B6A-7F49-48EE-95BE-D333B4E885BDQ61918590-8D9B57A5-B8F8-4809-BC60-DD77343F149DQ61920657-D393A77C-DAEE-444C-BF28-7D9C429AE934Q61924377-F4D23A48-A962-4E22-9090-D66787CF70A6Q61965907-1FC1B154-7539-4DCC-871D-2B6C0E750C3BQ61969521-22B0641C-849E-4B67-83C4-F8ACFAFF1953Q61980550-1D520C37-8F81-4105-A74C-F2507D036349Q61981124-DC175617-B4AB-4E33-8BCD-63B4D7C11D0EQ62035420-EE94768E-9790-47B6-A5AD-59AB6262DA1DQ62054696-55621274-6A26-4ECA-95BC-1A13587E4061Q62105663-35206F82-78A4-4412-A273-B75C471E4062Q62110831-6BB63EB3-DF54-487C-BB7C-BE7A9A8D3781Q63012600-CD8016A1-33EF-4EFD-943B-424A1E69E8E0Q63012699-CD50B757-FF92-46D1-8113-DBC2BAF60974Q63013021-0B125D9A-A3FA-4183-AF96-C104D28F8BCFQ63320882-3D56649B-F577-45C2-9E1E-7A0ED984BBA1Q63320937-527B836A-21C3-4254-9BDF-E33DD0F2CDDCQ63322174-48C21D61-9415-49F3-BF70-9DEF552302B1Q63334461-306847FB-3F4D-4F35-AD77-53EA1DE5962CQ63338754-5B32DB52-30E4-4D02-AF03-CC79B02417C9Q63339300-B66736A9-93E0-4622-B8E5-CBA8D33CCE38Q63394536-E8C758FD-B873-43D8-AE81-B03A7DF6B49EQ63398347-17A17F29-5551-4C6B-ACD4-1D80BC7B6921Q63399380-6A4D288A-0B64-486C-9945-E292F008A70FQ63400482-A8C9FB11-DDA1-454E-BA65-74D22F03FF7DQ63401760-143AA6D4-264B-4B15-9DA2-829FFA7C645DQ63534825-45C3E576-BB9F-4569-91DE-3A4A88E7537DQ63572799-6479658E-70E8-46FB-AEE1-50ACA0109BF1Q63572873-1C86A9A9-10C4-4B40-A3E6-8D81EC20D179Q63573719-07C9948F-39A3-4A2E-A85A-B1AEF1412CE4Q63581514-194A8CE6-9D04-41ED-8297-1613459C27BEQ63599972-F307AFCE-11A5-45FF-85F0-9C2719268465Q63812741-8D714880-13AC-4C2D-9F01-6DFBEE18F1EBQ63813288-71F32FB4-4236-41AE-9228-7E482D9DC2CDQ63813907-D1C9FADC-BE3F-46AA-A412-CD0D10A30E00Q63813933-B0EC348F-F8B8-48A9-97F5-E6F1A75E00C9Q63816339-D19E9729-02EA-4EBF-875C-D79213C83027
P1050
description
Krankheit
@de
Maladie génétique
@fr
malattia umana
@it
perinnöllinen entsyyminpuutostauti
@fi
rare human genetic lysosomal storage disorder
@en
Лизосомные болезни накопления
@ru
Лізосомні хвороби накопичення
@uk
مرض يصيب الإنسان
@ar
name
Anderson-Fabrys sjukdom
@sv
Choroba Fabry'ego
@pl
Fabry disease
@en
Fabry hastalığı
@tr
Fabryjeva bolezen
@sl
Fabryn tauti
@fi
Morbus Fabry
@de
doença de Fabry
@pt
enfermedad de Fabry
@es
maladie de Fabry
@fr
type
label
Anderson-Fabrys sjukdom
@sv
Choroba Fabry'ego
@pl
Fabry disease
@en
Fabry hastalığı
@tr
Fabryjeva bolezen
@sl
Fabryn tauti
@fi
Morbus Fabry
@de
doença de Fabry
@pt
enfermedad de Fabry
@es
maladie de Fabry
@fr
altLabel
Anderson-Fabry disease
@en
Ceramide Trihexosidase Deficiency
@en
Diffuse angiokeratoma
@en
FABRY DISEASE
@en
FD
@en
Fabry Disease, Cardiac Variant
@en
Fabry's disease (disorder)
@en
Fabry's disease
@en
Gla Deficiency
@en
Hereditary Dystopic Lipidosis
@en
prefLabel
Anderson-Fabrys sjukdom
@sv
Choroba Fabry'ego
@pl
Fabry disease
@en
Fabry hastalığı
@tr
Fabryjeva bolezen
@sl
Fabryn tauti
@fi
Morbus Fabry
@de
doença de Fabry
@pt
enfermedad de Fabry
@es
maladie de Fabry
@fr
P1748
P279
P2888
P2892
P31
P672
P780
P227
P486
P6366
P646
P672
P138
P1417
science/Fabrys-disease