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37 Resultado(s)

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Proyectos de investigación terminados = Financiado por un miembro del IRDiRC = Miembro de una ERN =

Proyectos de investigación

ITALIA

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

ITALIA

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

NORUEGA

Vestlandet
BERGEN

Porphyrins in plasma: quantitation, and their utility in the diagnosis and monitoring of the porphyrias
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

FRANCIA

NOUVELLE AQUITAINE
BORDEAUX

Financiado por un miembro del IRDiRCSafety of CRISPR-Cas9 nuclease use
Université de Bordeaux ISPED
Centre de recherche INSERM U1219

NORUEGA

Vestlandet
BERGEN

Natural History Study of Acute Hepatic Porphyria (AHP) Patients with Recurrent attacks
Haukeland University Hospital
Nasjonalt kompetansesenter for porfyrisykdommer

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

CANADA

Ontario
OTTAWA

Financiado por un miembro del 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

Financiado por un miembro del IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por un miembro del IRDiRCBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FRANCIA

ILE-DE-FRANCE
PARIS

Financiado por un miembro del IRDiRCRho GTPases and rare skin diseases
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163

ITALIA

LAZIO
ROMA

Financiado por un miembro del IRDiRCThe Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

NORUEGA

Vestlandet
BERGEN

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

NORUEGA

Vestlandet
BERGEN

NORUEGA

Vestlandet
BERGEN

Health related quality of life in PCT
Haukeland University Hospital
Nasjonalt kompetansesenter for porfyrisykdommer

NORUEGA

Vestlandet
BERGEN

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

NORUEGA

Vestlandet
BERGEN

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

NORUEGA

Vestlandet
BERGEN

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

REINO UNIDO (EL)

Avon
BRISTOL

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

REINO UNIDO (EL)

South Yorkshire
SHEFFIELD

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

SUECIA

Region Stockholm
SOLNA

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

SUIZA

Suisse Alémanique
ZÜRICH

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

SUIZA

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

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

ESPAÑA

Cataluña
BARCELONA

Red interhospitalaria catalana de variantes genéticas para mejorar el diagnóstico genético en enfermedades raras
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG

ESPAÑA

Cataluña
BARCELONA

ESPAÑA

Cataluña
BARCELONA

ESPAÑA

Cataluña
ESPLUGUES DE LLOBREGAT

ESPAÑA

Cataluña
L'HOSPITALET DE LLOBREGAT

ESPAÑA

Madrid
MADRID

Proyectos de investigación multicéntricos