155 studies found for:    "citrullinemia" OR "Amino Acid Metabolism, Inborn Errors"
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Rank Status Study
21 Withdrawn Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate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
22 Completed Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency
Conditions: Methionine Adenosyltransferase Deficiency;   Metabolism, Inborn Errors
Intervention: Drug: phosphatidylcholine
23 Completed Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency
Conditions: Tetrahydrobiopterin Deficiencies;   Hyperphenylalaninemia, Non-Phenylketonuric
Intervention: Drug: Phenoptin
24 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
25 Not yet recruiting Suitability of Nitisinone in Alkaptonuria 2
Condition: Alkaptonuria
Intervention: Drug: Nitisinone
26 Completed Homocyst(e)Ine, Vitamin Status, and CVD Risk
Conditions: Cardiovascular Diseases;   Cerebrovascular Accident;   Coronary Disease;   Myocardial Infarction;   Heart Diseases;   Hyperhomocysteinemia
Intervention:
27 Withdrawn Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome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
28 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
29 Completed
Has Results
Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006
Condition: Phenylketonuria
Intervention: Drug: sapropterin dihydrochloride
30 Completed
Has Results
Taste and Palatability of Orfadin Suspension
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
31 Completed Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria
Condition: Phenylketonurias
Intervention: Drug: sapropterin dihydrochloride
32 Recruiting Phenylbutyrate Therapy for Maple Syrup Urine Disease
Condition: Maple Syrup Urine Disease
Interventions: Drug: Phenylbutyrate;   Drug: Placebo powder
33 Completed Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria
Condition: Phenylketonuria
Intervention: Drug: rAvPAL-PEG
34 Completed Prevalence Of Hyperhomocysteinemia In Thai Chronic Kidney Disease (CKD) Patients
Conditions: Cardiovascular Disease;   Hyperhomocysteinemia
Intervention:
35 Terminated
Has Results
Phenylketonuria, Oxidative Stress, and BH4
Condition: Phenylketonuria
Interventions: Drug: Kuvan;   Other: Meal Challenge
36 Completed Neurologic Injuries in Adults With Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Urea Cycle Disorder;   Ornithine Transcarbamylase Deficiency
Intervention:
37 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
38 Recruiting Kuvan®'s Effect on the Cognition of Children With Phenylketonuria
Condition: Phenylketonuria
Intervention: Drug: Kuvan®
39 Completed
Has Results
Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels
Condition: Phenylketonurias
Intervention: Drug: sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin
40 Active, not recruiting Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU
Condition: Phenylketonuria
Intervention: Drug: sapropterin dihydrochloride

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Indicates status has not been verified in more than two years