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Terminated research projects = Funded by an IRDiRC member = Member of a ERN =

Research projects

ITALY

LAZIO
ROMA

Porphyrias: biochemical and genetical quality controls. Unusual signs and symptoms: hair shaft alteration.
IRCCS Istituto Dermatologico San Gallicano
S.S. Dipartimentale - Centro Porfirie e Malattie Rare

ITALY

LOMBARDIA
MILANO

Genetic study for the diagnosis and treatment of patients with Porphyria
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Laboratorio Divisionale - U.O.C. Medicina Generale

NORWAY

Vestlandet
BERGEN

Forbedring av metoder til diagnostikk og monitorering av porfyrisykdommer
Haukeland University Hospital
Nasjonalt kompetansesenter for porfyrisykdommer

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

SCENESSE® (Afamelanotide 16mg) Retrospective Chart Review - AT
Institution: Information not provided - AT

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Funded by an IRDiRC memberSafety of CRISPR-Cas9 nuclease use
Université de Bordeaux ISPED
Centre de recherche INSERM U1219

NORWAY

Vestlandet
BERGEN

En studie av det naturlige forløpet av akutt hepatisk porfyri (AHP) hos pasienter med gjentatte anfall
Haukeland University Hospital
Nasjonalt kompetansesenter for porfyrisykdommer

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

CANADA

Ontario
OTTAWA

Funded by an IRDiRC memberEmerging 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

Funded by an IRDiRC memberEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberRho GTPases and rare skin diseases
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberThe Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

NORWAY

Vestlandet
BERGEN

A corrective therapy for acute intermittent porphyria
Haukeland University Hospital
Nasjonalt kompetansesenter for porfyrisykdommer

NORWAY

Vestlandet
BERGEN

NORWAY

Vestlandet
BERGEN

Helserelatert livskvalitet ved porphyria cutanea tarda (PCT)
Haukeland University Hospital
Nasjonalt kompetansesenter for porfyrisykdommer

NORWAY

Vestlandet
BERGEN

One-carbon metabolism in patients with acute intermittent porphyria
Haukeland University Hospital
Nasjonalt kompetansesenter for porfyrisykdommer

NORWAY

Vestlandet
BERGEN

Malignancies and mortality in patients with porphyria - a comparison with the general Norwegian population
Haukeland University Hospital
Nasjonalt kompetansesenter for porfyrisykdommer

NORWAY

Vestlandet
BERGEN

A corrective therapy for acute intermittent porphyria
University of Bergen
Department of Biomedicine

SWEDEN

Region Stockholm
SOLNA

Inborn errors of endocrinology and metabolism
Karolinska Institutet
Department of Molecular Medicine and Surgery (MMK)

SWITZERLAND

Suisse Alémanique
ZÜRICH

Enterobacteria Strain-level Characterization in Children With Inborn Errors of Metabolism (IEM)
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

SWITZERLAND

Suisse Romande
LAUSANNE

Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont
CMM - Centre des Maladies Moléculaires

UNITED KINGDOM

Avon
BRISTOL

MetBioNet - National Metabolic Biochemistry Network.
Southmead Hospital
North Bristol NHS Trust

UNITED KINGDOM

South Yorkshire
SHEFFIELD

MetBioNet - National Metabolic Biochemistry Network.
The Sheffield Children's Hospital
Department of Clinical Chemistry

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

SPAIN

Cataluña
BARCELONA

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberIdentification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

Multicentric Research projects