140 studies found for:    "citrullinemia" OR "Amino Acid Metabolism, Inborn Errors"
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21 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
22 Active, not recruiting Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria
Condition: Alkaptonuria
Intervention: Drug: Nitisinone
23 Recruiting Protein Sorbent Properties of Montmorillonite in Vitro and in Vivo Models
Conditions: Urea Cycle Disorders, Inborn;   Other Metabolic Diseases
Interventions: Dietary Supplement: montmorillonite 5 g;   Dietary Supplement: montmorillonite 3 g;   Dietary Supplement: Montmorillonite 1 g
24 Active, not recruiting EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment
Conditions: Methylmalonic Aciduria and Homocystinuria,Cblc Type;   Genetic Disease;   Retinopathy
Interventions: Drug: Epi-743;   Other: Placebo supplementation
25 Recruiting Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
Conditions: Albinism;   Oculocutaneous Albinism;   Foveal Hypoplasia;   Hypopigmentation;   Nystagmus
Intervention:
26 Recruiting PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Kuvan
27 Completed Study of NTBC for Tyrosinemia I
Condition: Tyrosinemia I
Intervention: Drug: NTBC
28 Completed The Effect of Folic Acid Administration in the Progression of Microalbuminuria
Conditions: Diabetic Nephropathies;   Hyperhomocysteinemia
Interventions: Drug: Folic acid;   Drug: Placebo
29 Recruiting Neurocognitive Outcomes in Mild Hyperphenylalaninemia Study
Conditions: Phenylketonuria;   Mild Hyperphenylalaninemia
Intervention:
30 Unknown  Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan Nonresponders
Conditions: Phenylketonuria;   Behavior and Behavior Mechanisms;   PAH Gene Expression
Intervention: Drug: sapropterin dihydrochloride
31 Recruiting Nitric Oxide Supplementation in Argininosuccinic Aciduria
Conditions: Argininosuccinic Aciduria;   Argininosuccinate Lyase Deficiency;   Urea Cycle Disorders
Interventions: Dietary Supplement: Nitric oxide supplement;   Dietary Supplement: Placebo
32 Enrolling by invitation Effects of Kuvan on Melatonin Secretion
Condition: Phenylketonuria (PKU)
Interventions: Drug: Kuvan;   Dietary Supplement: Large Neutral Amino Acid Therapy
33 Recruiting Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria
Condition: Phenylketonuria
Interventions: Drug: Sapropterin;   Drug: Placebo
34 Terminated Phase I Study of Adenoviral Vector Mediated Gene Transfer for Ornithine Transcarbamylase in Adults With Partial Ornithine Transcarbamylase Deficiency
Condition: Ornithine Transcarbamylase Deficiency Disease
Intervention: Genetic: Adenoviral Vector-Mediated Gene Transfer
35 Active, not recruiting CSPPT- Chronic Kidney Diseases Study
Conditions: Hypertension;   Hyperhomocysteinemia
Interventions: Drug: Enalapril maleate and folic acid tablets;   Drug: Enalapril maleate
36 Recruiting A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis
Condition: Hermansky Pudlak Syndrome
Interventions: Other: Pulmonary function test;   Other: Chest CT;   Other: Sample collection
37 Completed Visual Function and Ocular Pigmentation in Albinism
Conditions: Albinism;   Albinism, Ocular;   Albinism, Oculocutaneous
Intervention:
38 Recruiting Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
Condition: Urea Cycle Disorders
Intervention: Biological: HHLivC
39 Active, not recruiting A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks
Condition: Phenylketonuria
Intervention: Biological: rAvPAL-PEG
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