152 studies found for:    "N-acetylglutamate synthase deficiency" OR "Amino Acid Metabolism, Inborn Errors"
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Rank Status Study
21 Recruiting Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I)
Condition: Citrullinemia
Intervention: Other: stable isotope infusion
22 Completed Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type I
Condition: Tyrosinemia, Type I
Intervention: Drug: NTBC
23 Not yet recruiting Suitability of Nitisinone in Alkaptonuria 2
Condition: Alkaptonuria
Intervention: Drug: Nitisinone
24 Withdrawn Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome
Conditions: Hermanski-Pudlak Syndrome;   Colitis;   Cytokines;   Lymphocytes;   Drug Evaluation
Interventions: Drug: Mesalamine;   Drug: Infliximab;   Drug: Corticosteroids;   Drug: 6-Mercaptopurine;   Drug: Tacrolimus;   Drug: Adalimumab
25 Completed Homocyst(e)Ine, Vitamin Status, and CVD Risk
Conditions: Cardiovascular Diseases;   Cerebrovascular Accident;   Coronary Disease;   Myocardial Infarction;   Heart Diseases;   Hyperhomocysteinemia
Intervention:
26 Terminated
Has Results
Phenylketonuria, Oxidative Stress, and BH4
Condition: Phenylketonuria
Interventions: Drug: Kuvan;   Other: Meal Challenge
27 Unknown  Citrulline Allo. Evaluation of Citrullinemia as a Marker of Bowel Damage After Allogeneic Bone Marrow Transplantation in Children
Condition: Benign Disease
Intervention:
28 Enrolling by invitation Effects of Kuvan on Melatonin Secretion
Condition: Phenylketonuria (PKU)
Interventions: Drug: Kuvan;   Dietary Supplement: Large Neutral Amino Acid Therapy
29 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
30 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
31 Completed Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy
Condition: Phenylketonuria
Intervention: Drug: KUVAN (BH4)
32 Completed Homocystinuria: Treatment With N-Acetylcysteine
Condition: Homocystinuria
Intervention: Drug: N-acetylcysteine
33 Recruiting Screening Protocol for Genetic Diseases of Mast Cell Homeostasis and Activation
Conditions: Piebaldism;   Idiopathic Anaphylaxis;   Allergy;   Chronic Urticara;   Angioedema
Intervention:
34 Unknown  Study of NTBC for Tyrosinemia I
Condition: Tyrosinemia I
Intervention: Drug: NTBC
35 Recruiting Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants
Conditions: Urea Cycle Disorders;   Organic Acidemias
Interventions: Other: Therapeutic Hypothermia;   Other: Standard of care therapy
36 Completed A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects
Condition: Phenylketonuria
Interventions: Drug: sapropterin dihydrochloride;   Drug: Moxifloxacin
37 Recruiting Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI
Condition: Ornithine Transcarbamylase Deficiency
Interventions: Behavioral: MRI scanning;   Behavioral: Cognitive testing
38 Recruiting Moderate Intensity Exercise and Phenylketonuria
Conditions: Phenylketonuria;   PKU
Intervention: Other: Acute Moderate Intensity Exercise
39 Active, not recruiting Kuvan® in Phenylketonuria Patients Less Than 4 Years Old
Condition: Phenylketonuria
Interventions: Drug: Kuvan®;   Other: Phenylalanine (Phe)-restricted diet
40 Terminated Phase I Pilot Study of Liver-Directed Gene Therapy for Partial Ornithine Transcarbamylase Deficiency
Condition: Ornithine Transcarbamylase Deficiency Disease
Intervention: Genetic: recombinant adenovirus containing the ornithine transcarbamylase gene

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Indicates status has not been verified in more than two years