160 studies found for:    "argininosuccinic aciduria" OR "amino acid metabolism, inborn errors"
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Rank Status Study
21 Completed Neurologic Injuries in Adults With Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Urea Cycle Disorder;   Ornithine Transcarbamylase Deficiency
Intervention:
22 Unknown  Citrulline Allo. Evaluation of Citrullinemia as a Marker of Bowel Damage After Allogeneic Bone Marrow Transplantation in Children
Condition: Benign Disease
Intervention:
23 Completed Follow-up of Adult Phenylketonuria (PKU) Patients
Conditions: Nutritional Deficiencies;   Phenylketonuria
Intervention:
24 Enrolling by invitation Phase 2 Study of Glycomacropeptide Versus Amino Acid Diet for Management of Phenylketonuria
Condition: Phenylketonuria
Interventions: Dietary Supplement: Amino Acid (AA) Diet Given First;   Dietary Supplement: Glycomacropeptide (GMP) diet given first
25 Terminated
Has Results
Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome
Conditions: Hermansky-Pudlak Syndrome (HPS);   Pulmonary Fibrosis;   Oculocutaneous Albinism;   Platelet Storage Pool Deficiency;   Metabolic Disease
Interventions: Drug: Losartan;   Drug: Zileuton;   Drug: N-Acetylcysteine;   Drug: Pravastatin;   Drug: Erythromycin
26 Active, not recruiting A Retrospective Analysis of Cerefolin NAC® in Cognitively Impaired Patients
Condition: Mild Cognitive Impairment
Intervention:
27 Completed Uremic Hyperhomocysteinemia -A Folate Trial for Possible Prevention of Cardiovascular Events
Conditions: Uremia;   Chronic Renal Failure;   Hemodialysis;   Hyperhomocysteinemia;   Cardiovascular Disease
Intervention: Drug: folate treatment
28 Recruiting Nitisinone for Type 1B Oculocutaneous Albinism
Conditions: Albinism;   Vision Loss
Intervention: Drug: Nitisinone (NTBC)
29 Completed Quantitative Requirements of Docosahexaenoic Acid for Neural Function in Children With Phenylketonuria
Condition: Phenylketonuria
Interventions: Dietary Supplement: high oleic sunflower oil;   Dietary Supplement: microalgal oil
30 Recruiting Kuvan®'s Effect on the Cognition of Children With Phenylketonuria
Condition: Phenylketonuria
Intervention: Drug: Kuvan®
31 Active, not recruiting Kuvan® in Phenylketonuria Patients Less Than 4 Years Old
Condition: Phenylketonuria
Interventions: Drug: Kuvan®;   Other: Phenylalanine (Phe)-restricted diet
32 Terminated Moderate Intensity Exercise and Phenylketonuria
Conditions: Phenylketonuria;   PKU
Intervention: Other: Acute Moderate Intensity Exercise
33 Completed Study of a Phenylalanine Restricted Diet During Pregnancy to Prevent Symptoms in Offspring of Patients With Phenylketonuria
Condition: Phenylketonuria
Intervention: Behavioral: phenylalanine restricted diet
34 Completed Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy
Condition: Phenylketonuria
Intervention: Drug: KUVAN (BH4)
35 Completed Study of the Safety, Pharmacokinetics and Efficacy of HPN-100, in Pediatric Subjects With Urea Cycle Disorders (UCDs)
Condition: Urea Cycle Disorders
Intervention: Drug: HPN-100
36 Recruiting Efficacy of Amlodipine-folic Acid Tablets on Reduction of Blood Pressure and Plasma Homocysteine
Condition: Essential Hypertension
Interventions: Drug: Amlodipine;   Drug: amlodipine-FA tablet, low dose group;   Drug: amlodipine-FA tablet ,high dose group
37 Completed Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency
Conditions: Tetrahydrobiopterin Deficiencies;   Hyperphenylalaninemia, Non-Phenylketonuric
Intervention: Drug: Phenoptin
38 Completed Effects of Low-dose Complex B-vitamins on Homocysteine and Framingham Risk Score Among Chinese Elderly
Condition: Hyperhomocysteinemia
Intervention: Dietary Supplement: Low-dose complex B-vitamins
39 Recruiting Phenylketonuria and Hyperphenylalaninemia Nutrition Study
Condition: Phenylketonuria (PKU) and Hyperphenylalaninemia
Intervention:
40 Completed Randomized Study of Folic Acid Therapy for Hyperhomocysteinemia in Patients With End Stage Renal Disease Receiving Hemodialysis
Conditions: End Stage Renal Disease;   Hyperhomocysteinemia
Interventions: Drug: cyanocobalamin;   Drug: folic acid;   Drug: pyridoxine

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Indicates status has not been verified in more than two years