154 studies found for:    "N-acetylglutamate synthase deficiency" OR "Amino Acid Metabolism, Inborn Errors"
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Rank Status Study
21 Terminated Moderate Intensity Exercise and Phenylketonuria
Conditions: Phenylketonuria;   PKU
Intervention: Other: Acute Moderate Intensity Exercise
22 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
23 Completed Follow-up of Adult Phenylketonuria (PKU) Patients
Conditions: Nutritional Deficiencies;   Phenylketonuria
Intervention:
24 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
25 Enrolling by invitation The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU)
Condition: Phenylketonuria
Intervention: Drug: Sapropterin (Kuvan)
26 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
27 Completed Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency
Conditions: Tetrahydrobiopterin Deficiencies;   Hyperphenylalaninemia, Non-Phenylketonuric
Intervention: Drug: Phenoptin
28 Terminated A Pilot Study on Diurnal Variation
Condition: Phenylketonuria (PKU)
Intervention: Drug: Kuvan
29 Recruiting PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Kuvan
30 Recruiting Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
Conditions: Albinism;   Oculocutaneous Albinism;   Foveal Hypoplasia;   Hypopigmentation;   Nystagmus
Intervention:
31 Recruiting Nitisinone for Type 1B Oculocutaneous Albinism
Conditions: Albinism;   Vision Loss
Intervention: Drug: Nitisinone (NTBC)
32 Completed
Has Results
Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria
Condition: Phenylketonuria
Intervention: Drug: Kuvan®
33 Enrolling by invitation Effects of Kuvan on Brain and Cognition in Individuals With Phenylketonuria
Condition: Phenylketonuria
Intervention: Drug: Sapropterin (Kuvan)
34 Completed
Has Results
Study of the Efficacy and Safety of HPN-100, Glyceryl Tri-(4-phenylbutyrate), for the Treatment of Adults With Urea Cycle Disorders (Help UCD)
Condition: Urea Cycle Disorders
Interventions: Drug: HPN-100;   Drug: Buphenyl (NaPBA)
35 Active, not recruiting Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria
Condition: Alkaptonuria
Intervention: Drug: Nitisinone
36 Unknown  Punchgrafting Techniques for Vitiligo
Conditions: Non-segmental Vitiligo;   Segmental Vitiligo;   Piebaldism
Intervention: Procedure: punchgrafting
37 Active, not recruiting A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks
Condition: Phenylketonuria
Intervention: Biological: rAvPAL-PEG
38 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
39 Completed Study to Evaluate the Effects of Kuvan on Individuals With Phenylketonuria (PKU) With Maladaptive Behaviors
Condition: Phenylketonuria
Intervention:
40 Enrolling by invitation Observational Study of Endothelial Dysfunction in Phenylketonuria
Conditions: Phenylketonuria;   Endothelial Dysfunction
Intervention:

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Indicates status has not been verified in more than two years