168 studies found for:    "citrullinemia" OR "Amino Acid Metabolism, Inborn Errors"
Show Display Options
Rank Status Study
21 Completed PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde Dehydrogenase Deficiency;   SSADH Deficiency
Intervention:
22 Completed Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde;   Dehydrogenase Deficiency;   Diseases
Intervention:
23 Recruiting Clinical and Laboratory Study of Methylmalonic Acidemia
Conditions: Amino Acid Metabolism;   Inborn Errors
Intervention:
24 Completed Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency
Conditions: Methionine Adenosyltransferase Deficiency;   Metabolism, Inborn Errors
Intervention: Drug: phosphatidylcholine
25 Not yet recruiting A Phase 3 Substudy to Evaluate Executive Function in Adults With PKU Who Are Participating in the Phase 3 Study, 165-302
Condition: Phenylketonuria
Intervention: Other: Administration of CANTAB and Subject Global Assessment
26 Enrolling by invitation Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients
Conditions: Segmental Vitiligo;   Piebaldism
Interventions: Device: ReCell;   Device: Full surface CO2 laser 200 mJ;   Device: Full surface CO2 laser 150 mJ;   Device: Fractional CO2 laser 7.5 mJ, 20%
27 Enrolling by invitation Testing of Four Home Phenylalanine Monitoring Prototype Devices
Condition: Phenylketonurias
Intervention:
28 Recruiting Impact of Phenylketonuria-type Diet on Appetite, Appetite Hormones and Diet Induced Thermogenesis
Condition: Phenylketonuria (PKU)
Interventions: Dietary Supplement: Phenylketonuria-type diet;   Other: Normal (control) diet
29 Not yet recruiting Betaine METABOLISM OF PATIENTS With Homocystinuria
Condition: Homocystinuria
Intervention: Drug: Betaine
30 Recruiting Effect of L-Arginine and Pycnogenol on Light to Moderate Hypertension and Endothelial Function
Conditions: Hyperhomocysteinemia;   Hypertension Grade I
Intervention: Dietary Supplement: Verum
31 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
32 Recruiting Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
33 Recruiting Long Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical Care
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
34 Recruiting Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment
Condition: Urea Cycle Disorders
Intervention:
35 Recruiting PKU Kuvan Imaging Study
Condition: Phenylketonuria
Intervention:
36 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
37 Recruiting A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders (UCDs)
Condition: Urea Cycle Disorder
Intervention: Drug: RAVICTI
38 Recruiting Antioxidant Signature in Adult Patients With Phenylketonuria
Conditions: PKU;   Hyperphenylalaninemia
Interventions: Other: Blood sample;   Other: Urine sample
39 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
40 Enrolling by invitation Observational Study of Endothelial Dysfunction in Phenylketonuria
Conditions: Phenylketonuria;   Endothelial Dysfunction
Intervention:

First Page    Show previous page of results Previous Page (1-20) Studies Shown (21-40) Next Page (41-60) Show next page of results    Last Page
Indicates status has not been verified in more than two years