154 studies found for:    "N-acetylglutamate synthase deficiency" OR "Amino Acid Metabolism, Inborn Errors"
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Rank Status Study
21 Recruiting Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia
Conditions: Phenylketonuria;   Hyperphenylalaninemia
Intervention:
22 Enrolling by invitation Effects of Kuvan on Melatonin Secretion
Condition: Phenylketonuria (PKU)
Interventions: Drug: Kuvan;   Dietary Supplement: Large Neutral Amino Acid Therapy
23 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
24 Unknown  Citrulline Allo. Evaluation of Citrullinemia as a Marker of Bowel Damage After Allogeneic Bone Marrow Transplantation in Children
Condition: Benign Disease
Intervention:
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 Enrolling by invitation Observational Study of Endothelial Dysfunction in Phenylketonuria
Conditions: Phenylketonuria;   Endothelial Dysfunction
Intervention:
28 Active, not recruiting Long-Term Extension of Phase 2 Protocols of rAvPAL-PEG in Subjects With PKU (PAL-003)
Condition: Phenylketonuria
Intervention: Drug: rAvPAL-PEG
29 Unknown  Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response
Condition: Phenylketonuria
Intervention: Drug: Kuvan
30 Recruiting Liver Cell Transplant for Phenylketonuria
Condition: Phenylketonuria
Interventions: Radiation: Preparative Radiation Therapy;   Procedure: Hepatocyte Transplant;   Drug: Immunosuppression;   Other: Liver Evaluation;   Behavioral: Psychological Assessment
31 Completed Study of BH4, a New and Simple Treatment of Mild PKU
Condition: Phenylketonuria
Intervention: Drug: 5,6,7,8-tetrahydrobiopterin
32 Completed Effect of S-adenosylmethionine (SAMe) on Blood Levels of Homocysteine
Condition: Hyperhomocysteinemia
Intervention: Dietary Supplement: S-adenosylmethionine
33 Completed Dose-Escalation Safety Study of HPN-100 to Treat Urea Cycle Disorders
Condition: Urea Cycle Disorders
Intervention: Drug: HPN-100
34 Completed The Early History of Universal Screening for Metabolic Disorders
Conditions: Phenylketonuria;   Galactosemia;   Inborn Errors of Metabolism
Intervention:
35 Recruiting Comparative Efficacy of Phenylbutyrate (PBA) vs. Benzoate in Urea Cycle Disorders
Condition: UCDs (The Data May be Helpful in the Treatment of UCDs.)
Interventions: Drug: Sodium Benzoate;   Drug: Sodium Phenylbutyrate;   Drug: Phenylbutyrate and Benzoate
36 Completed Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients
Condition: Phenylketonuria
Interventions: Drug: Sapropterin dihydrochloride;   Drug: Placebo
37 Active, not recruiting To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)
Condition: Urea Cycle Disorders
Intervention: Drug: HPN-100
38 Terminated Neuroimaging and Neurocognitive Assessment and Response to Sapropterin Dihydrochloride Treatment in Phenylketonuria
Condition: PKU
Interventions: Dietary Supplement: diet;   Drug: sapropterin dihydrochloride
39 Active, not recruiting Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients
Conditions: Piebaldism;   Segmental Vitiligo
Interventions: Procedure: ReCell epidermal cell suspension grafting;   Procedure: CO2 laser abrasion + UV-therapy
40 Not yet recruiting The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism
Conditions: Ocular Albinism (OA);   Oculocutaneous Albinism (OCA)
Interventions: Dietary Supplement: Lutein plus Zeaxanthin;   Dietary Supplement: Placebo

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Indicates status has not been verified in more than two years