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Projetos de investigação encerrados = 
Financiado por um membro do IRDiRC = 
Membro de uma ERN = 
Projetos de investigação
FRANCA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Clinical research on Refsum disease
APHP. Université Paris-Saclay, Hôpital Bicêtre
Service de Neuropédiatrie
ITALIA
UMBRIA
PERUGIA
Development of a small-molecule therapy for PH1 based on the combined administration of B6 vitamers and pharmacological chaperones
Università degli Studi di Perugia
Dipartimento di Medicina Sperimentale
CANADA
Ontario
OTTAWA
Emerging 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
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine
ESPANHA
Andalucía
MÁLAGA
Early detection and treatment of infants affected by X-linked adrenoleucodystrophy: a prospective population-based study
FIMABIS
Fundación Pública Andaluza para la Investigación de Málaga en Biomedicina y Salud
ESPANHA
Cataluña
L'HOSPITALET DE LLOBREGAT
Deciphering variable disease expression in adrenoleukodystrophy: toward precision medicine through multiomics and brain organoids
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Instituto de Investigación Biomédica de Bellvitge
ESPANHA
Cataluña
L'HOSPITALET DE LLOBREGAT
Role of mitochondries and oxidative stress in Adrenoleukodystrophy: therapeutical involvements
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas
ESPANHA
Cataluña
L'HOSPITALET DE LLOBREGAT
Pharmacological therapies for X-linked adrenoleukodystrophy
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas
ESPANHA
Cataluña
L'HOSPITALET DE LLOBREGAT
Impact of human gut microbiome in the phenotypic divergence in X-linked adrenoleukodystophy
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
FRANCA
BOURGOGNE-FRANCHE-COMTE
DIJON
Estimating the role of L-carnitine dependent enzymes in the regulation of very long chain fatty acids metabolism in adrenoleukodystrophy
Université de Bourgogne
Biochimie du Peroxysome, Inflammation et Métabolisme Lipidique
FRANCA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Towards a rational therapy for X-linked adrenoleukodystrophy
APHP. Université Paris-Saclay, Hôpital Bicêtre
Service de Neuropédiatrie
FRANCA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Role of mitochondries and oxidative stress in Adrenoleukodystrophy: therapeutical involvements
APHP. Université Paris-Saclay, Hôpital Bicêtre
Service de Neuropédiatrie
FRANCA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Vectors production for gene therapy of X-linked adrenoleukodystrophy (X-ALD)
APHP. Université Paris-Saclay, Hôpital Bicêtre
Service de Neuropédiatrie
FRANCA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Vector quality control and patients' follow up in the gene therapy trials for adrenoleukodystrophy and metachromatic leukodystrophy
APHP. Université Paris-Saclay, Hôpital Bicêtre
Service de Neuropédiatrie
FRANCA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Unravel the phenotypic variability of X linked adrenoleukodystrophy
APHP. Université Paris-Saclay, Hôpital Bicêtre
Service de Neuropédiatrie
FRANCA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Pharmacological therapies for X-linked adrenoleukodystrophy
APHP. Université Paris-Saclay, Hôpital Bicêtre
Service de Neuropédiatrie
ITALIA
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Towards a rational therapy for X-linked adrenoleukodystrophy
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Unravel the phenotypic variability of X linked adrenoleukodystrophy
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten
PAISES BAIXOS
Noord-Holland
AMSTERDAM
SCAN Study: Pilot study Adrenoleukodystrophy (ALD)-screening for implementation in neonatal screening
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten
REINO UNIDO
Avon
BRISTOL
MetBioNet - National Metabolic Biochemistry Network.
Southmead Hospital
North Bristol NHS Trust
REINO UNIDO
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)
SUICA
Suisse Alémanique
ZÜRICH
Enterobacteria Strain-level Characterization in Children With Inborn Errors of Metabolism (IEM)
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten
SUICA
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
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESPANHA
Andalucía
SEVILLA
Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud
Área de bioinformática clínica
ESPANHA
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
ESPANHA
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
ESPANHA
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
ESPANHA
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
ESPANHA
Cataluña
ESPLUGUES DE LLOBREGAT
Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación en Neurogenética y Medicina Molecular
ESPANHA
Cataluña
ESPLUGUES DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona
Servicio de Laboratorio
ESPANHA
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
ESPANHA
Madrid
MADRID
Identification 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
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Effect of abcd1 upon brain endothelium in x-linked adrenoleukodystrophy
Institution: Information not provided - US
Projetos de investigação multicêntricos
- Institut für Humangenetik am Universitätsklinikum Köln
- Institut für Humangenetik
- Hospital Universitario de Canarias
- Servicio de Anatomía Patológica
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Oxford University Begbroke Science Park
- Zyoxel Limited
- Institut für Humangenetik der Universität Göttingen
- Institut für Humangenetik
ALEMANHA
Nordrhein-Westfalen
KÖLN
ERAdicatPH: Understanding primary hyperoxaluria type 1 towards the development of innovative therapeutic strategies
ESPANHA
Canarias
LA CUESTA
Oxaleurope: European hyperoxaluria consortium
ITALIA
CAMPANIA
NAPOLI
AAVEYE: gene therapy for inherited severe photoreceptor diseases
REINO UNIDO
Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
ALEMANHA
Niedersachsen
GÖTTINGEN