155 studies found for:    "citrullinemia" OR "Amino Acid Metabolism, Inborn Errors"
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21 Completed Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde;   Dehydrogenase Deficiency;   Diseases
Intervention:
22 Recruiting A Phase I/II Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADCdeficiency Using AAV2-hAADC
Condition: Aromatic Amino Acid Decarboxylase Deficiency
Intervention: Genetic: gene therapy
23 Completed Study to Evaluate 13 C Isotope Ratio Measurement for Urea Cycle Capacity Assessment
Condition: Urea Cycle Disorders
Intervention: Other: sodium [1-13C] acetate
24 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
25 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®
26 Completed Hyperphenylalaninemia in Cerebral Malaria
Condition: Plasmodium Falciparum Malaria
Intervention:
27 Recruiting Clinical and Basic Investigations Into Erdheim Chester Disease
Conditions: Myelofibrosis;   Gaucher Disease;   Pulmonary Fibrosis;   Hermansky-Pudlak Syndrome (HPS);   Cancer
Intervention:
28 Recruiting Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria
Condition: Phenylketonuria
Interventions: Drug: Sapropterin;   Drug: Placebo
29 Active, not recruiting Biotin Status in Pregnancy
Condition: Biotin Deficiency
Intervention: Dietary Supplement: biotin
30 Enrolling by invitation Effects of Kuvan on Brain and Cognition in Individuals With Phenylketonuria
Condition: Phenylketonuria
Intervention: Drug: Sapropterin (Kuvan)
31 Enrolling by invitation The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU)
Condition: Phenylketonuria
Intervention: Drug: Sapropterin (Kuvan)
32 Completed Dose Response Study of Nitisinone in Alkaptonuria
Condition: Alkaptonuria
Intervention: Drug: Nitisinone
33 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
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 Completed Visual Function and Ocular Pigmentation in Albinism
Conditions: Albinism;   Albinism, Ocular;   Albinism, Oculocutaneous
Intervention:
36 Recruiting Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
Condition: Urea Cycle Disorders
Intervention: Biological: HHLivC
37 Recruiting Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
Conditions: Albinism;   Oculocutaneous Albinism;   Foveal Hypoplasia;   Hypopigmentation;   Nystagmus
Intervention:
38 Recruiting PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Kuvan
39 Completed Study to Evaluate the Effects of Kuvan on Individuals With Phenylketonuria (PKU) With Maladaptive Behaviors
Condition: Phenylketonuria
Intervention:
40 Completed 5-Methyltetrahydrofolate Survival and Inflammation in ESRD Patients
Conditions: Mortality;   Hyperhomocysteinemia;   Inflammation
Interventions: Drug: 5-MTHF (5-methyltetrahydrofolate);   Drug: folic acid

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Indicates status has not been verified in more than two years