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Funded by an IRDiRC member = Member of a ERN =

Research projects

FRANCE

ILE-DE-FRANCE
PARIS

Dyslipidemia genetics: phenotype-genotype relationships; vascular consequences in children of hereditary dyslipidemia
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Service de Nutrition et Gastroentérologie Pédiatriques

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

Loss of MMP12 in LAL-D and cardiometabolic disease
Institution: Information not provided - AT

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

CANADA

Ontario
TORONTO

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberIdentifying the molecular basis underlying the heterogeneity among the spectrum of lysosomal acid lipase deficiency by a proteogenomic approach supported
Faculté de médecine Paris-Descartes, Site Necker
INSERM U1151 - Institut Necker-Enfants Malades (INEM)

ITALY

LAZIO
ROMA

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

SPAIN

Cataluña
REUS

Funded by an IRDiRC memberEpigenetic study to improve the genetic diagnosis of familial hyperlipidemias
Institut d'Investigació Sanitària Pere Virgili. Facultat de Medicina
URLA: Unidad de investigación en lípidos y arteriosclerosis

SWEDEN

Region Stockholm
HUDDINGE

Oxysterols in health and disease
Karolinska Institutet - Huddinge
Division of Clinical Chemistry

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

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

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

FINLAND

Finland
KUOPIO

Funded by an IRDiRC memberGene therapy of Familial hypercholesterolemia
University of Eastern Finland
A.I. Virtanen Institute for Molecular Sciences

SPAIN

Cataluña
REUS

Early detection of familial hypercholesterolemia in children in Tarragona province
Hospital Universitari de Sant Joan de Reus
Servicio de Medicina Interna

Multicentric Research projects