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Fructose Metabolism, Inborn Errors

Showing 1 - 25 of 6,719
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Biomarker for Glycogen Storage Diseases (BioGlycogen)

Active, not recruiting
  • Fructose Metabolism, Inborn Errors
  • +9 more
    • Rostock, Germany
    • +3 more
    May 12, 2021

    Metabolism, Infection, and Immunity in Inborn Errors of

    Recruiting
    • Oxidative Phosphorylation Deficiencies
    • +3 more
      • Bethesda, Maryland
        National Institutes of Health Clinical Center
      Jan 18, 2023

      Intestinal Microbiota in Inborn Errors of Metabolism (IEM)

      Recruiting
      • Inborn Errors of Metabolism
      • +3 more
        • Zürich, Switzerland
          University Children's Hospital
        Apr 8, 2022

        Transition, Inborn Errors of Metabolism Trial in Austria, Switzerland (Behavioral)

        Not yet recruiting
        • Transition
        • Inborn Errors of Metabolism
        • Behavioral
        • Vienna, Austria
        • +7 more
        Nov 9, 2022

        Inborn Errors of Cholesterol Synthesis and Related Disorders

        Recruiting
        • Lysosomal Storage Disease
        • Cholesterol Metabolism
          • Bethesda, Maryland
            National Institutes of Health Clinical Center
          Dec 28, 2022

          Large-Scale Metabolomic Profiling for Diagnosis of Inborn Errors

          Enrolling by invitation
          • Congenital Disorders of Glycosylation
            • Rochester, Minnesota
              Mayo Clinic in Rochester
            Jan 8, 2022

            Biomarkers for Inborn Errors of Metabolism

            Completed
            • Inborn Errors of Metabolism
            • Biomarker
              • Tirana, Albania
              • +12 more
              Mar 23, 2022

              Orphan Drugs for Inherited Metabolic Diseases

              Recruiting
              • Inborn Errors of Metabolism
                • Lausanne, Vaud, Switzerland
                  Lausanne University Hospital
                Apr 19, 2023

                Cerebral Palsy, Genetic Disease, Developmental Delay Trial in Ljubljana (NGS)

                Completed
                • Cerebral Palsy
                • +3 more
                • NGS
                • Ljubljana, Slovenia
                  University Children's Hospital, University Medical Centre Ljublj
                Nov 1, 2022

                Cholesterol, HDL, Lipid Metabolism, Inborn Errors, Tangier Disease Trial in Philadelphia (3H-cholesterol bound to albumin)

                Suspended
                • Cholesterol, HDL
                • +4 more
                • 3H-cholesterol bound to albumin
                • Philadelphia, Pennsylvania
                  University of Pennsylvania
                Jul 14, 2022

                Inherited Diseases, Caregiving, and Social Networks

                Completed
                • Undiagnosed Disease
                • +4 more
                  • Bethesda, Maryland
                    National Institutes of Health Clinical Center
                  Jan 6, 2023

                  Hereditary Fructose Intolerance, Fructose Metabolism, Inborn Errors, Glucose Metabolism Disorders Trial (Test meal)

                  Completed
                  • Hereditary Fructose Intolerance
                  • +2 more
                  • Test meal
                  • (no location specified)
                  Jul 15, 2019

                  Carbohydrate Intolerance Trial in Springfield (Low-FODMAP diet group (LFD), Low Sugar diet group (LAS))

                  Recruiting
                  • Carbohydrate Intolerance
                  • Low-FODMAP diet group (LFD)
                  • Low Sugar diet group (LAS)
                  • Springfield, Oregon
                    Oregon Health and Science University
                  Sep 21, 2023

                  Organ Transplant, Cancer, Inborn Errors of Metabolism Trial (A sphygmanometer, a digital thermometer, a pulse oximeter and a

                  Not yet recruiting
                  • Organ Transplant
                  • +5 more
                  • A sphygmanometer, a digital thermometer, a pulse oximeter and a peak flow meter will be given to participants to use during their telemedicine consultations with health care providers.
                  • (no location specified)
                  Feb 8, 2023

                  Adult Patients With Inborn Errors of Metabolism in Switzerland

                  Completed
                  • Inborn Errors of Metabolism
                    • Lausanne, Vaud, Switzerland
                      Lausanne University Hospitals
                    Jul 19, 2021

                    Utilizing Augmented Artificial Intelligence for

                    Completed
                    • Inborn Errors of Metabolism
                    • Plasma amino acid assay
                    • Karachi, Sindh, Pakistan
                      Aga Khan University Hospital
                    Jun 29, 2022

                    Non-Immune Hydrops Fetalis Trial in France (NON-IMMUNE HYDROPS FETALIS diagnosis)

                    Recruiting
                    • Non-Immune Hydrops Fetalis
                    • NON-IMMUNE HYDROPS FETALIS diagnosis
                    • Besançon, France
                    • +16 more
                    Jan 17, 2022

                    Dyslipidemias, High Cholesterol, Hypercholesterolemia Trial in United States (Obicetrapib, Placebo)

                    Recruiting
                    • Dyslipidemias
                    • +8 more
                    • Sarasota, Florida
                    • +11 more
                    Aug 10, 2022

                    Induced Pluripotent Stem Cells for Development of Novel Drug

                    Recruiting
                    • Inborn Errors of Metabolism
                    • Skin biopsy
                    • Withdraw of blood
                    • Lahore, Pakistan
                      Children Hospital and Institute of Child Health
                    May 14, 2021

                    Brain Metabolism Observed at 7 Tesla

                    Recruiting
                    • Glut1 Deficiency Syndrome 1
                    • +6 more
                    • Magnetic resonance imaging
                    • Dallas, Texas
                      UT Southwestern Medical Center
                    Aug 24, 2022

                    COVID-19 and Hereditary Metabolic Diseases

                    Recruiting
                    • Covid19
                    • Metabolism, Inborn Errors
                      • Lille, France
                        Hop Claude Huriez Chu Lille
                      Feb 28, 2022

                      Medium-chain Acyl-CoA Dehydrogenase Deficiency Trial in Pittsburgh (Triheptanoin)

                      Recruiting
                      • Medium-chain Acyl-CoA Dehydrogenase Deficiency
                      • Pittsburgh, Pennsylvania
                        UPMC Children's Hospital of Pittsburgh
                      Sep 27, 2023

                      Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Trial (Triheptanoin)

                      Available
                      • Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
                      • (no location specified)
                      Nov 22, 2022

                      Thiotepa and TEPA Drug Exposure in Pediatric Hematopoietic Stem

                      Active, not recruiting
                      • Hematologic Malignancies
                      • +7 more
                      • San Francisco, California
                        University of California, San Francisco
                      Feb 28, 2022

                      A Non-Interventional Post-Authorization Study of Carbaglu for

                      Enrolling by invitation
                      • Hyperammonemia
                      • +2 more
                      • carglumic acid
                      • Indianapolis, Indiana
                        Riley Children's Hospital
                      Apr 24, 2023