163 studies found for:    "citrullinemia" OR "Amino Acid Metabolism, Inborn Errors"
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Rank Status Study
21 Recruiting Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Metabolic Disease;   Seizures
Interventions: Drug: SGS-742;   Drug: Placebo
22 Completed Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde;   Dehydrogenase Deficiency;   Diseases
Intervention:
23 Terminated Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia
Conditions: Propionic Acidemia (PA);   Methylmalonic Acidemia (MMA)
Intervention: Drug: N-carbamylglutamate
24 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
25 Completed Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency
Conditions: Tetrahydrobiopterin Deficiencies;   Hyperphenylalaninemia, Non-Phenylketonuric
Intervention: Drug: Phenoptin
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 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
28 Completed Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients
Condition: Phenylketonuria
Interventions: Drug: Sapropterin dihydrochloride;   Drug: Placebo
29 Not yet recruiting Betaine METABOLISM OF PATIENTS With Homocystinuria
Condition: Homocystinuria
Intervention: Drug: Betaine
30 Withdrawn Neuroimaging and Neurocognitive Assessment and Response to Sapropterin Dihydrochloride Treatment in Phenylketonuria
Condition: PKU
Interventions: Dietary Supplement: diet;   Drug: sapropterin dihydrochloride
31 Recruiting Antioxidant Signature in Adult Patients With Phenylketonuria
Conditions: PKU;   Hyperphenylalaninemia
Interventions: Other: Blood sample;   Other: Urine sample
32 Active, not recruiting Kuvan® in Phenylketonuria Patients Less Than 4 Years Old
Condition: Phenylketonuria
Interventions: Drug: Kuvan®;   Other: Phenylalanine (Phe)-restricted diet
33 Terminated Moderate Intensity Exercise and Phenylketonuria
Conditions: Phenylketonuria;   PKU
Intervention: Other: Acute Moderate Intensity Exercise
34 Unknown  Punchgrafting Techniques for Vitiligo
Conditions: Non-segmental Vitiligo;   Segmental Vitiligo;   Piebaldism
Intervention: Procedure: punchgrafting
35 Active, not recruiting Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria
Condition: Alkaptonuria
Intervention: Drug: Nitisinone
36 Completed Anaplerotic Therapy in Propionic Acidemia
Condition: Propionic Acidemia
Interventions: Drug: ornithine alpha ketoglutarate;   Drug: glutamine;   Drug: disodium citrate
37 Recruiting Vision Response to Dopamine Replacement
Conditions: Albinism;   Oculocutaneous Albinism
Intervention: Drug: Levodopa/carbidopa
38 Completed Trial of L-DOPA as a Treatment to Improve Vision in Albinism
Condition: Albinism
Intervention: Drug: Levodopa
39 Active, not recruiting Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU
Condition: Phenylketonuria
Intervention: Drug: sapropterin dihydrochloride
40 Enrolling by invitation Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy
Conditions: Hyperphenylalaninemia;   Phenylketonuria
Intervention: Drug: Sapropterin

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Indicates status has not been verified in more than two years