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71 Resultaat/Resultaten

Onderzoeksprojecten

Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism Children's Hospital of Eastern Ontario Newborn Screening Ontario

Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism University of Ottawa Department of Epidemiology and Community Medicine

Longitudinal Study of Urea Cycle Disorders Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin

The Italian Expanded newborn screening program ISS - Istituto Superiore di Sanità Centro Nazionale Malattie Rare

Biosensors for the monitoring of Hereditary Metabolic Diseases. Development and evaluation of functional prototypes for conceptual validation Universitat Autònoma de Barcelona Grupo de Sensores y Biosensores

Biosensors for the monitoring of Hereditary Metabolic Diseases. Development and evaluation of functional prototypes for conceptual validation Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu Grupo de investigación del Metabolismo energético mitocondrial

Basic and clinical studies in immune function and metabolism Institution: Information not provided - US

Metabolic engineering in humans: altered gut microbes as a therapeutic platform Institution: Information not provided - US

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

Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism Universitäts - Kinderspital Zürich - Eleonorenstiftung Abteilung für Stoffwechselkrankheiten

Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer Hospital for Sick Children, Research Institute

High-throughput mutation analysis for known and novel single-gene causes of kidney stones and related disorders Universitätsklinikum Leipzig AöR Klinik und Poliklinik für Endokrinologie, Nephrologie, Rheumatologie

Physiopathological studies of Lowe's syndrome and Dent's disease, two clinical entities with common molecular basis? CHU de Grenoble et des Alpes - Institut de biologie et de pathologie Laboratoire de Génétique Moléculaire: maladies héréditaires et oncologie

STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR Muséum National d'Histoire Naturelle Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FROGH : FRench Regional Origins in Genetics for Health - FR Institut de Recherche en Santé - Université de Nantes L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

Role of phosphoinositide metabolism in the structure and function of the Golgi complex and in the pathogenesis of Lowe syndrome TIGEM - Telethon Institute of Genetics and Medicine Laboratorio di Ricerca

RNA-based therapeutics for OTC deficiency Università degli Studi di Ferrara - Dip. di Scienze della vita e biotecnologie Dipartimento di Scienze della vita e biotecnologie

Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine Research Institute of Environmental Medicine, Nagoya University

Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability Research Institute of Environmental Medicine, Nagoya University

Study to provide several lines of evidence which directly connecting to managements for target diseases of newborn screening Gifu University Graduate School of Medicine Department of Pediatrics

Formation of integrated omics analysis base of refractory diseases in children and perinatal period National Center for Child Health and Development Research Institute

European post marketing registry for RAVICTI® (Glycerolphenylbutyrat), oral liquid, in cooperation with the European registry and network for intoxication type metabolic diseases - E-IMD (RRPE) - AT Institution: Information not provided - AT

Personalized medicine in the genetic defects of neurotransmission in pediatrics. New approach based on the metabolism of the neuronal synapse (amino acid mediated neurotransmission diseases) Hospital Sant Joan de Déu Barcelona Unidad de Enfermedades Metabólicas Congénitas

A Long-Term Follow-up Study to Evaluate Safety and Efficacy of Adeno-Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Human Ornithine Transcarbamylase (OTC) in Adults With Late-Onset OTC Deficiency - ES Institution: Information not provided - ES

Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases Fundación Jiménez Díaz Área de Genética y Genómica

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

Mitigating mitochondrial epigenetics in bone remodeling by hydrogen sulfide Institution: Information not provided - US

Cell and gene replacement strategies for arginase deficiency Institution: Information not provided - US

The role of inhibitory neurons in microcephaly and seizure caused by asparagine synthetase (asns) deficiency Institution: Information not provided - US

Pharmacologic augmentation of gene therapy with n-carbamylglutamate (ncg) Institution: Information not provided - US

Gene therapy for urea cycle disorders Institution: Information not provided - US

Barriers to achieving efficient gene therapy Institution: Information not provided - US

Establishment of in vivo CRISPR-Cas base editor approaches to treat monogenetic liver diseases ETH Zurich - Hönggerberg campus Institute of Molecular Health Sciences

SNAP: Klinische studie voedingsstoffen bij volwassen PKU Ghent University Hospital - UZ Gent CEMA - Centrum voor Erfelijke Metabole Aandoeningen

PANDA: Een cross-sectioneel onderzoek om bloedaminozuurniveaus te meten bij PKU-kinderen op een eiwitvervanger Ghent University Hospital - UZ Gent CEMA - Centrum voor Erfelijke Metabole Aandoeningen

Formulation and efficacy of a corn-derived phenylalanine ammonia-lyase for the treatment of phenylketonuria (PKU) and hyperphenylalaninemias University of Alberta Department of Biological Sciences

Formulation and efficacy of a corn-derived phenylalanine ammonia-lyase for the treatment of phenylketonuria (PKU) and hyperphenylalaninemias Child & Family Research Institute

Application of Stable Isotopes to Determine Protein Requirements in Children with Phenylketonuria (PKU) University of British Columbia CFRI - Child and Family Research Institute

Minimally Invasive 13C-Breath Test to Examine Phenylalanine Metabolism in Children with Phenylketonuria University of British Columbia CFRI - Child and Family Research Institute

Multicentre Study Project to Evaluate the New Generation of Protein Supplements With Glycomacropeptide (GMP) in Patients With Phenylketonuria (PKU) Aged 10 Years and Older Over a 16 Week Period. Kreiskliniken Reutlingen Klinik für Kinder- und Jugendmedizin

CORD : Collaboration On Rare Diseases Geschäftsstelle BIH Berliner Institut für Gesundheitsforschung

BioTyrosin - Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1: An international, multicenter, epidemiological protocol Centogene AG

Identification and preclinical analysis of therapeutic molecules for the treatment of alkaptonuria Università degli Studi di Siena - Presidio San Miniato Sezione di Biochimica e Biologia Molecolare

Proteomic and clinical study of alkaptonuria physiopathology and set up a therapy for the treatment of ochronosis Università degli Studi di Siena - Presidio San Miniato Sezione di Biochimica e Biologia Molecolare

Clinical Development of Nitisinone for Alkaptonuria Università degli Studi di Siena - Presidio San Miniato Sezione di Biochimica e Biologia Molecolare

Preclinical study of therapeutic agents for the treatment of ochronotic arthropathy Università degli Studi di Siena - Presidio San Miniato Sezione di Biochimica e Biologia Molecolare

Comprehensive analysis of the molecular pathogenesis of gyrate atrophy towards the rationalization and the optimization of the therapy with vitamin B6 Università degli Studi di Perugia Dipartimento di Medicina Sperimentale

Biomedical research and clinical innovation in hereditary retinal dystrophies: towards personalized medicine in rare diseases Hospital Universitario Virgen del Rocío Unidad de Medicina Maternofetal, Genética y Reproducción

Design and development of a new phenylalanine test for family management of phenylketonuria Universidad de Zaragoza. Facultad de Ciencias Departamento de Bioquimica y Biologia Molecular y Celular (Facultad de Ciencias)

Adeno-associated viral gene therapy with AAV9-GCDH to correct glutaric aciduria type 1 in Gcdh -1- mice Fundació Clínic per a la Recerca Biomèdica Grupo Terapia génica y cáncer

Multicentre study in glutaric aciduria type I: Clinic, radiologic and neurocognitive characterization - National registry development Hospital Universitario 12 de Octubre Unidad Pediátrica de Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias

Clinical and molecular studies of malformations Institution: Information not provided - US

Investigations of methylmalonic acidemia and related disorders Institution: Information not provided - US

A new view of pah allostery - correlation with disease-associated alleles Institution: Information not provided - US

Creating a paper-based phenylalanine test for personalized therapy monitoring by patients with phenylketonuria Institution: Information not provided - US

The effect of cofactors and vitamins on homocysteine and methylmalonic acid metabolism in health and disease Universitäts - Kinderspital Zürich - Eleonorenstiftung Abteilung für Stoffwechselkrankheiten

AAV-mediated gene therapy for molybdenum cofactor deficiency type B Institut für Humangenetik der Universität Göttingen Institut für Humangenetik

Zebrafish models of human disease Institution: Information not provided - US

Multicentrische onderzoeksprojecten

CIMDRN- Canadian Inherited Metabolic Diseases Research Network University of Ottawa Faculty of Medicine -

Réseau Sud-Ouest des erreurs innées du métabolisme Institut Fédératif de Biologie Laboratoire de Biochimie

EUGINDAT: European genomics initiative on disorders of plasma membrane amino acid transporters IRB Barcelona - Instituto de Investigación Biomédica Transportadores de aminoácidos y enfermedad

BioMeder - Genes, proteins and signaling pathways in rare diseases Instituto de Biomedicina de Valencia (CSIC) Unidad de Genética y Medicina Molecular

TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT Oxford University Begbroke Science Park Zyoxel Limited

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

Maternal Infant Child and Youth Research Network (MICYRN) University of British Columbia Maternal Infant Child and Youth Research Network

French network for genetic, cellular and clinical researches on Lowe syndrome CHU de Grenoble et des Alpes - Institut de biologie et de pathologie Laboratoire de Génétique Moléculaire: maladies héréditaires et oncologie

STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy Muséum National d'Histoire Naturelle Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FROGH : FRench Regional Origins in Genetics for Health Institut de Recherche en Santé - Université de Nantes L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed) IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO Servizio Clinico di Consulenza Genetica

SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases Newcastle upon Tyne Hospitals NHS Trust John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario

Newborn Screening Ontario

Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa

Department of Epidemiology and Community Medicine

Longitudinal Study of Urea Cycle Disorders
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik

Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin

The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità

Centro Nazionale Malattie Rare

Biosensors for the monitoring of Hereditary Metabolic Diseases. Development and evaluation of functional prototypes for conceptual validation
Universitat Autònoma de Barcelona

Grupo de Sensores y Biosensores

Biosensors for the monitoring of Hereditary Metabolic Diseases. Development and evaluation of functional prototypes for conceptual validation
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu

Grupo de investigación del Metabolismo energético mitocondrial

Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US

Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US

Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna

Department of Molecular Medicine and Surgery

Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
Universitäts - Kinderspital Zürich - Eleonorenstiftung

Abteilung für Stoffwechselkrankheiten

Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

High-throughput mutation analysis for known and novel single-gene causes of kidney stones and related disorders
Universitätsklinikum Leipzig AöR

Klinik und Poliklinik für Endokrinologie, Nephrologie, Rheumatologie

Physiopathological studies of Lowe's syndrome and Dent's disease, two clinical entities with common molecular basis?
CHU de Grenoble et des Alpes - Institut de biologie et de pathologie

Laboratoire de Génétique Moléculaire: maladies héréditaires et oncologie

STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle

Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes

L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

Role of phosphoinositide metabolism in the structure and function of the Golgi complex and in the pathogenesis of Lowe syndrome
TIGEM - Telethon Institute of Genetics and Medicine

Laboratorio di Ricerca

RNA-based therapeutics for OTC deficiency
Università degli Studi di Ferrara - Dip. di Scienze della vita e biotecnologie

Dipartimento di Scienze della vita e biotecnologie

Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University

Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University

Study to provide several lines of evidence which directly connecting to managements for target diseases of newborn screening
Gifu University Graduate School of Medicine

Department of Pediatrics

Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development

Research Institute

European post marketing registry for RAVICTI® (Glycerolphenylbutyrat), oral liquid, in cooperation with the European registry and network for intoxication type metabolic diseases - E-IMD (RRPE) - AT
Institution: Information not provided - AT

Personalized medicine in the genetic defects of neurotransmission in pediatrics. New approach based on the metabolism of the neuronal synapse (amino acid mediated neurotransmission diseases)
Hospital Sant Joan de Déu Barcelona

Unidad de Enfermedades Metabólicas Congénitas

A Long-Term Follow-up Study to Evaluate Safety and Efficacy of Adeno-Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Human Ornithine Transcarbamylase (OTC) in Adults With Late-Onset OTC Deficiency - ES
Institution: Information not provided - ES

Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz

Área de Genética y Genómica

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

Mitigating mitochondrial epigenetics in bone remodeling by hydrogen sulfide
Institution: Information not provided - US

Cell and gene replacement strategies for arginase deficiency
Institution: Information not provided - US

The role of inhibitory neurons in microcephaly and seizure caused by asparagine synthetase (asns) deficiency
Institution: Information not provided - US

Pharmacologic augmentation of gene therapy with n-carbamylglutamate (ncg)
Institution: Information not provided - US

Gene therapy for urea cycle disorders
Institution: Information not provided - US

Barriers to achieving efficient gene therapy
Institution: Information not provided - US

Establishment of in vivo CRISPR-Cas base editor approaches to treat monogenetic liver diseases
ETH Zurich - Hönggerberg campus

Institute of Molecular Health Sciences

SNAP: Klinische studie voedingsstoffen bij volwassen PKU
Ghent University Hospital - UZ Gent

CEMA - Centrum voor Erfelijke Metabole Aandoeningen

PANDA: Een cross-sectioneel onderzoek om bloedaminozuurniveaus te meten bij PKU-kinderen op een eiwitvervanger
Ghent University Hospital - UZ Gent

CEMA - Centrum voor Erfelijke Metabole Aandoeningen

Formulation and efficacy of a corn-derived phenylalanine ammonia-lyase for the treatment of phenylketonuria (PKU) and hyperphenylalaninemias
University of Alberta

Department of Biological Sciences

Formulation and efficacy of a corn-derived phenylalanine ammonia-lyase for the treatment of phenylketonuria (PKU) and hyperphenylalaninemias
Child & Family Research Institute

Application of Stable Isotopes to Determine Protein Requirements in Children with Phenylketonuria (PKU)
University of British Columbia

CFRI - Child and Family Research Institute

Minimally Invasive 13C-Breath Test to Examine Phenylalanine Metabolism in Children with Phenylketonuria
University of British Columbia

CFRI - Child and Family Research Institute

Multicentre Study Project to Evaluate the New Generation of Protein Supplements With Glycomacropeptide (GMP) in Patients With Phenylketonuria (PKU) Aged 10 Years and Older Over a 16 Week Period.
Kreiskliniken Reutlingen

Klinik für Kinder- und Jugendmedizin

CORD : Collaboration On Rare Diseases
Geschäftsstelle BIH

Berliner Institut für Gesundheitsforschung

BioTyrosin - Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1: An international, multicenter, epidemiological protocol
Centogene AG

Identification and preclinical analysis of therapeutic molecules for the treatment of alkaptonuria
Università degli Studi di Siena - Presidio San Miniato

Sezione di Biochimica e Biologia Molecolare

Proteomic and clinical study of alkaptonuria physiopathology and set up a therapy for the treatment of ochronosis
Università degli Studi di Siena - Presidio San Miniato

Sezione di Biochimica e Biologia Molecolare

Clinical Development of Nitisinone for Alkaptonuria
Università degli Studi di Siena - Presidio San Miniato

Sezione di Biochimica e Biologia Molecolare

Preclinical study of therapeutic agents for the treatment of ochronotic arthropathy
Università degli Studi di Siena - Presidio San Miniato

Sezione di Biochimica e Biologia Molecolare

Comprehensive analysis of the molecular pathogenesis of gyrate atrophy towards the rationalization and the optimization of the therapy with vitamin B6
Università degli Studi di Perugia

Dipartimento di Medicina Sperimentale

Biomedical research and clinical innovation in hereditary retinal dystrophies: towards personalized medicine in rare diseases
Hospital Universitario Virgen del Rocío

Unidad de Medicina Maternofetal, Genética y Reproducción

Design and development of a new phenylalanine test for family management of phenylketonuria
Universidad de Zaragoza. Facultad de Ciencias

Departamento de Bioquimica y Biologia Molecular y Celular (Facultad de Ciencias)

Adeno-associated viral gene therapy with AAV9-GCDH to correct glutaric aciduria type 1 in Gcdh -1- mice
Fundació Clínic per a la Recerca Biomèdica

Grupo Terapia génica y cáncer

Multicentre study in glutaric aciduria type I: Clinic, radiologic and neurocognitive characterization - National registry development
Hospital Universitario 12 de Octubre

Unidad Pediátrica de Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias

Clinical and molecular studies of malformations
Institution: Information not provided - US

Investigations of methylmalonic acidemia and related disorders
Institution: Information not provided - US

A new view of pah allostery - correlation with disease-associated alleles
Institution: Information not provided - US

Creating a paper-based phenylalanine test for personalized therapy monitoring by patients with phenylketonuria
Institution: Information not provided - US

The effect of cofactors and vitamins on homocysteine and methylmalonic acid metabolism in health and disease
Universitäts - Kinderspital Zürich - Eleonorenstiftung

Abteilung für Stoffwechselkrankheiten

AAV-mediated gene therapy for molybdenum cofactor deficiency type B
Institut für Humangenetik der Universität Göttingen

Institut für Humangenetik

Zebrafish models of human disease
Institution: Information not provided - US

CIMDRN- Canadian Inherited Metabolic Diseases Research Network

University of Ottawa

Faculty of Medicine -

Réseau Sud-Ouest des erreurs innées du métabolisme

Institut Fédératif de Biologie

Laboratoire de Biochimie

EUGINDAT: European genomics initiative on disorders of plasma membrane amino acid transporters

IRB Barcelona - Instituto de Investigación Biomédica

Transportadores de aminoácidos y enfermedad

BioMeder - Genes, proteins and signaling pathways in rare diseases

Instituto de Biomedicina de Valencia (CSIC)

Unidad de Genética y Medicina Molecular

TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT

Oxford University Begbroke Science Park

Zyoxel Limited

MetBioNet - National Metabolic Biochemistry Network

The Sheffield Children's Hospital

Department of Clinical Chemistry

Maternal Infant Child and Youth Research Network (MICYRN)

University of British Columbia

Maternal Infant Child and Youth Research Network

French network for genetic, cellular and clinical researches on Lowe syndrome

CHU de Grenoble et des Alpes - Institut de biologie et de pathologie

Laboratoire de Génétique Moléculaire: maladies héréditaires et oncologie

STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy

Muséum National d'Histoire Naturelle

Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FROGH : FRench Regional Origins in Genetics for Health

Institut de Recherche en Santé - Université de Nantes

L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)

IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO

Servizio Clinico di Consulenza Genetica

SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases

Newcastle upon Tyne Hospitals NHS Trust

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine