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Found 57 studies with search of: "ornithine translocase deficiency" OR "Amino Acid Metabolism, Inborn Errors"
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Rank Status Study
1 Recruiting Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder
Conditions: Argininosuccinic Aciduria;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Interventions: Drug: Sodium Phenylbutyrate (Buphenyl-TM);   Drug: Arginine
2 Recruiting Study of Treatment and Metabolism in Patients With Urea Cycle Disorders
Condition: Amino Acid Metabolism, Inborn Errors
Interventions: Behavioral: Protein and calorie controlled diet;   Gene Transfer: Ornithine transcarbamylase vector
3 Recruiting Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Intervention:
4 Completed Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Intervention for Urea Cycle Disorders
Condition: Amino Acid Metabolism, Inborn Errors
Interventions: Drug: Sodium Benzoate;   Drug: Sodium Phenylacetate;   Drug: Sodium Phenylbutyrate;   Behavioral: Dietary Intervention
5 Completed Study of BH4, a New and Simple Treatment of Mild PKU
Condition: Phenylketonuria
Intervention: Drug: 5,6,7,8-tetrahydrobiopterin
6 Active, not recruiting The Early History of Universal Screening for Metabolic Disorders
Conditions: Phenylketonuria;   Galactosemia;   Inborn Errors of Metabolism
Intervention:
7 Recruiting Effect of S-Adenosylmethionine (SAMe) on Blood Levels of Homocysteine
Condition: Hyperhomocysteinemia
Intervention: Drug: S-adenosylmethionine (SAMe)
8 Recruiting Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response
Condition: Phenylketonuria
Intervention: Drug: Kuvan
9 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
10 Recruiting PKUDOS: PKU Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Sapropterin Dihydrochloride
11 Recruiting Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
Conditions: Albinism;   Oculocutaneous Albinism;   Foveal Hypoplasia;   Hypopigmentation;   Nystagmus
Intervention:
12 Recruiting Study of Alkaptonuria
Condition: Alkaptonuria
Intervention:
13 Completed Homocystinuria: Treatment With N-Acetylcysteine
Condition: Homocystinuria
Intervention: Drug: N-acetylcysteine
14 Completed A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenylalanine Levels
Condition: Phenylketonurias
Intervention: Drug: sapropterin dihydrochloride
15 Recruiting Response to Phenylketonuria to Tetrahydrobiopterin (BH4)
Condition: Phenylketonuria
Intervention: Drug: tetrahydrobiopterin (BH4)
16 Recruiting Hyperphenylalaninemia in Cerebral Malaria
Condition: Plasmodium Falciparum Malaria
Intervention:
17 Not yet recruiting Biotin Status in Pregnancy
Condition: Biotin Deficiency
Interventions: Dietary Supplement: biotin;   Dietary Supplement: biotin
18 Terminated Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety
Condition: Phenylalanine Hydroxylase Deficiencies
Intervention: Drug: tetrahydrobiopterin (BH4)
19 Completed 5-Methyltetrahydrofolate Survival and Inflammation in ESRD Patients
Conditions: Mortality;   Hyperhomocysteinemia;   Inflammation
Interventions: Drug: 5-MTHF (5-methyltetrahydrofolate);   Drug: folic acid
20 Completed The Effect of Folic Acid Administration in the Progression of Microalbuminuria
Conditions: Diabetic Nephropathies;   Hyperhomocysteinemia
Interventions: Drug: Folic acid;   Drug: Placebo

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