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Your search returned 15 studies. (Get alerts for new studies):Lipoprotein Metabolism in Normal Volunteers and Patients With High Levels of LipoproteinsConditions: Abetalipoproteinemia - Atherosclerosis - Healthy - Inborn Errors Lipid Metabolism1 Location availableClinical and Laboratory Study of Methylmalonic AcidemiaConditions: Amino Acid Metabolism - Inborn Errors1 Location availableDietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase DeficiencyConditions: Mevalonic Aciduria - Mevalonate Kinase Deficiency - Immune System Diseases - Periodic Fever Syndromes, Hereditary - Lipid Metabolism, Inborn Errors1 Location availableStudy of Smith-Lemli-Opitz SyndromeConditions: Abnormalities - Inborn Errors of Metabolism - Mental Retardation - Muscle Hypotonia - Smith Lemli Opitz Syndrome1 Location availableDiagnosis and Treatment of Patients With Inborn Errors of MetabolismConditions: Metabolism1 Location availableStudy of Inborn Errors of Cholesterol Synthesis and Related DisordersConditions: Lipoidosis1 Location availableHSCT for High Risk Inherited Inborn ErrorsConditions: Adrenoleukodystrophy - Metachromatic Leukodystrophy - Globoid Cell Leukodystrophy - Tay Sachs Disease - Sandhoffs Disease - Wolman Disease - I-Cell Disease - Sanfilippo Syndrome - GM1 Gangliosidosis1 Location availableStudy of Fludarabine Drug Exposure in Pediatric Bone Marrow TransplantationConditions: Hematologic Malignancies - Nonmalignant Diseases - Immunodeficiencies - Hemoglobinopathies - Genetic Inborn Errors of Metabolism - Fanconi's Anemia, - Thalassemia - Sickle Cell Disease1 Location availableIncreasing Ureagenesis in Inborn Errors of Metabolism With N-CarbamylglutamateConditions: Urea Cycle Disorders, Inborn - Inborn Errors of Metabolism - Propionic Acidemia - Methylmalonic Acidemia - Carbamyl Phosphate Synthetase Deficiency1 Location availableLongitudinal Study of Urea Cycle DisordersConditions: Brain Diseases, Metabolic, Inborn - Amino Acid Metabolism, Inborn Errors - Urea Cycle Disorders11 Locations availableUnrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood CellsConditions: MDS - Anemia, Aplastic - Inborn Errors of Metabolism - Congenital Marrow Failure - Congenital Immunodeficiency Syndrome1 Location availableReduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant DisordersConditions: Non Malignant Disorders - Immunodeficiencies - Congenital Marrow Failures - Hemoglobinopathies - Inborn Errors of Metabolism - Sickle Cell - Thalassemia - Lysosomal Storage Disease1 Location availableN-Carbamylglutamate (Carbaglu) In The Treatment Of HyperammonemiaConditions: Inborn Errors of Metabolism1 Location availableFetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage DiseasesConditions: Lysosomal Storage Diseases - Inborn Errors of Metabolism2 Locations availableOpen Label, Continuation Study of Cholic Acid in Subjects With Inborn Errors of Bile Acid SynthesisConditions: Bile Acid Synthesis Defect1 Location available
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