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187 studies found for:    "argininosuccinic aciduria" OR "amino acid metabolism, inborn errors"
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Rank Status Study
21 Available Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism
Conditions: Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency;   Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2);   Mitochondrial Trifunctional Protein Deficiency;   Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency;   Glycogen Storage Disorders;   Pyruvate Carboxylase Deficiency Disease;   ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY of;   Barth Syndrome
Intervention: Drug: triheptanoin
22 Withdrawn Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate
Conditions: Urea Cycle Disorders, Inborn;   Inborn Errors of Metabolism;   Propionic Acidemia;   Methylmalonic Acidemia;   Carbamyl Phosphate Synthetase Deficiency
Intervention: Drug: N-carbamylglutamate
23 Unknown  Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study
Conditions: Malonic Aciduria;   Methylmalonic Acidemia
24 Completed PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde Dehydrogenase Deficiency;   SSADH Deficiency
25 Completed Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde;   Dehydrogenase Deficiency;   Diseases
26 Recruiting Clinical and Laboratory Study of Methylmalonic Acidemia
Conditions: Amino Acid Metabolism;   Inborn Errors
27 Completed Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency
Conditions: Methionine Adenosyltransferase Deficiency;   Metabolism, Inborn Errors
Intervention: Drug: phosphatidylcholine
28 Recruiting Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders
Condition: Urea Cycle Disorders
Interventions: Procedure: MRI;   Behavioral: Behavioral
29 Recruiting GMP Drink for PKU Study
Condition: Phenylketonuria
Intervention: Dietary Supplement: Glycomacropeptide-based protein substitute
30 Recruiting Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
Condition: Metabolic Disease
Conditions: Mild Cognitive Impairment;   Dementia;   Hypoxia;   Hyperhomocysteinemia;   Vitamin B 12 Deficiency;   Iron Deficiency;   Anemia;   TBI;   Neurodegenerative Disorders;   Alzheimer's Disease;   Vascular Dementia;   Brain Injuries;   Tauopathies;   Parkinson's Disease;   Lewy Body Dementia;   Frontotemporal Dementia;   TDP-43 Proteinopathies
32 Enrolling by invitation Feasibility Study of the Intensive Systolic Blood Pressure Control
Conditions: Hypertension;   Hyperhomocysteinemia
Interventions: Drug: Standard BP control;   Drug: Moderate BP control;   Drug: Intensive BP control
33 Completed Bioequivalence Study of Two Nitisinone Formulations Compared to Orfadin
Condition: Hereditary Tyrosinemia, Type I
Interventions: Drug: Nitisinone;   Drug: Nitisinone 10 mg Tablet High Compritol;   Drug: Orfadin
34 Completed
Has Results
Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1)
Condition: Hereditary Tyrosinemia, Type I
Interventions: Drug: Nitisinone;   Drug: Nitisinone Baked Tablet;   Drug: Orfadin
35 Completed Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1)
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
36 Recruiting PCORI Urea Cycle Disorder Study
Condition: Urea Cycle Disorders
Intervention: Other: No Intervention Given
37 Not yet recruiting The Effectiveness of Kuvan in Amish PKU Patients
Condition: Phenylketonuria
Interventions: Drug: saproterin dihydrochloride;   Other: Diet treatment
38 Recruiting Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
Conditions: Metabolism, Inborn Errors;   Lipid Metabolism, Inborn Errors;   Carbohydrate Metabolism, Inborn Errors;   Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency;   Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV);   Carnitine Palmitoyl Transferase 2 Deficiency;   VLCAD Deficiency;   Medium-chain Acyl-CoA Dehydrogenase Deficiency;   Multiple Acyl-CoA Dehydrogenase Deficiency;   Carnitine Transporter Deficiency;   Neutral Lipid Storage Disease;   Glycogen Storage Disease Type II;   Glycogen Storage Disease Type III;   Glycogen Storage Disease Type IV;   Glycogen Storage Disease Type V;   Muscle Phosphofructokinase Deficiency;   Phosphoglucomutase 1 Deficiency;   Phosphoglycerate Mutase Deficiency;   Phosphoglycerate Kinase Deficiency;   Phosphorylase Kinase Deficiency;   Beta Enolase Deficiency;   Lactate Dehydrogenase Deficiency;   Glycogen Synthase Deficiency
Intervention: Other: Sugar
39 Not yet recruiting Simplified Diet Approach in Phenylketonuria
Condition: Phenylketonuria
Intervention: Behavioral: Dietary Protein Counting and Free Fruits and Vegetables
40 Completed Effect of Vitamin B12 Supplementation on Glycaemic Control in Uncontrolled Hyperhomocysteinemic Type 2 Diabetic Patients
Conditions: Type 2 Diabetes;   Vitamin B12 Deficiency;   Hyperhomocysteinemia
Intervention: Dietary Supplement: METHYLCOBALAMIN 500 micrograms

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