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Progetti di ricerca

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

AUSTRIA

WIEN
WIEN

Finanziato da un ente associato a IRDiRCNeuroLSD: Neuro-metabolic, structural and functional hallmarks of Lysosomal Storage Diseases - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Endokrinologie und Stoffwechsel

CANADA

Ontario
TORONTO

Finanziato da un ente associato a IRDiRCThe FACTs Project: FAbry disease Clinical research and Therapeutics
Toronto General Hospital
University Health Network (UHN)

FRANCIA

ILE-DE-FRANCE
GARCHES

Understanding the pathophysiology of Fabry disease
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Service de Génétique Médicale - Centre de référence Maladies Rares

FRANCIA

NOUVELLE AQUITAINE
BORDEAUX

Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain
CHU de Bordeaux-GH Pellegrin
Laboratoire de génétique moléculaire

GERMANIA

Bayern
WÜRZBURG

MALTA-FABRY: MigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational Study
Universitätsklinikum Würzburg
ZESE - Zentrum für Seltene Erkrankungen (ZSE) - Referenzzentrum Nordbayern

GERMANIA

Berlin
BERLIN

Finanziato da un ente associato a IRDiRCCORD : Collaboration On Rare Diseases
Geschäftsstelle BIH
Berliner Institut für Gesundheitsforschung

GIAPPONE

JAPAN
KYOTO

Finanziato da un ente associato a IRDiRCDevelopment of novel therapeutics of cardiac Fabry disease with the splicing modifier compound.
Kyoto University Graduate School of Medicine
Department of Anatomy and Developmental Biology

ITALIA

LOMBARDIA
SAN DONATO MILANESE

Effetto di Migalastat sul coinvolgimento cardiaco nella malattia di Fabry
IRCCS Policlinico San Donato
U.O. Imaging Cardiaco Multimodale

ITALIA

SICILIA
PALERMO

Studio delle alterazioni enzimatiche e genetiche nella malattia di Fabry a scopo di diagnosi
Consiglio Nazionale delle Ricerche
Laboratorio di Neuroscienze

NORVEGIA

Østlandet
OSLO

Longitudinal changes in health related quality of life in individuals with Fabry disease
Oslo University Hospital, Ullevaal
NKSD - Nasjonal kompetansetjeneste for sjeldne diagnoser

PORTOGALLO

NORTE
PORTO

Fabry disease- an immunological study
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma

SPAGNA

Cataluña
BARCELONA

Finanziato da un ente associato a IRDiRCImproved treatment of lysosomal deposition diseases using optimized nanometric vehicles
Vall d'Hebron Institut de Recerca VHIR
CIBBIM-Nanomedicina. Direccionamento y Liberación Farmacológica

SPAGNA

Galicia
VIGO

Finanziato da un ente associato a IRDiRCStudy of immunitary system dysfunction in Fabry Disease
Hospital Álvaro Cunqueiro
Grupo de Patología neonatal, Pediatría, Enfermedades Raras

PORTOGALLO

NORTE
PORTO

Splicing therapeutics for patients affected by lisosomal storage disorders.
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética

PORTOGALLO

NORTE
PORTO

The crosstalk between lipid antigen presentation and the pathogenic mechanisms of Lysosomal Storage Diseases
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma

SVEZIA

Region Västerbotten
UMEÅ

CANADA

Ontario
OTTAWA

Finanziato da un ente associato a IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario

CANADA

Ontario
OTTAWA, ONTARIO

Finanziato da un ente associato a IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

FRANCIA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCIA

ILE-DE-FRANCE
PARIS

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a IRDiRCDevelopment of novel disease-causing gene based therapies for cardiomyopathies
Tokyo Medical and Dental University Medical Research Institute

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCProgramma Italiano per lo screening neonatale esteso
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SPAGNA

Cataluña
BARCELONA

Finanziato da un ente associato a IRDiRCMinority diseases causing basal ganglia degeneration in pediatrics: combined implementation of genomic and biomarker analysis
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en neurología pediátrica

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCPersonalizing The Risk Of Stroke And Silent Brain Infarct In Cardiovascular Disease
Hospital General Universitario Gregorio Marañón
Servicio de Cardiología

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

SVEZIA

Region Stockholm
STOCKHOLM

Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

SVIZZERA

Suisse Alémanique
ZÜRICH

Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

CANADA

Ontario
TORONTO

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCIA

PAYS DE LA LOIRE
NANTES

Finanziato da un ente associato a IRDiRCFROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

Progetti di ricerca multicentrici