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Funded by an IRDiRC member = Member of a ERN =

Research projects

FRANCE

ILE-DE-FRANCE
COLOMBES

EPI: European Porphyria Initiative (coordination)
CHU Paris Nord-Val de Seine - Hôpital Louis Mourier
Centre Français des Porphyries

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

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

SWEDEN

Region Stockholm
STOCKHOLM

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

SWITZERLAND

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

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

Ontario
TORONTO

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

Multicentric Research projects