138 studies found for:    "argininosuccinic aciduria" OR "amino acid metabolism, inborn errors"
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Rank Status Study
21 Completed The Early History of Universal Screening for Metabolic Disorders
Conditions: Phenylketonuria;   Galactosemia;   Inborn Errors of Metabolism
Intervention:
22 Completed Dose-Escalation Safety Study of HPN-100 to Treat Urea Cycle Disorders
Condition: Urea Cycle Disorders
Intervention: Drug: HPN-100
23 Recruiting Liver Cell Transplant for Phenylketonuria
Condition: Phenylketonuria
Interventions: Radiation: Preparative Radiation Therapy;   Procedure: Hepatocyte Transplant;   Drug: Immunosuppression;   Other: Liver Evaluation;   Behavioral: Psychological Assessment
24 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
25 Completed Study of NTBC for Tyrosinemia I
Condition: Tyrosinemia I
Intervention: Drug: NTBC
26 Recruiting Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia
Conditions: Phenylketonuria;   Hyperphenylalaninemia
Intervention:
27 Completed The Effects of 8-week Choline, Betaine, and Folic Acid Supplementation on Plasma Homocysteine Concentration During Guanidinoacetic Acid Loading in Young Healthy Volunteers
Condition: Hyperhomocysteinemia
Interventions: Drug: TEST 1;   Drug: TEST 2;   Drug: TEST 3;   Drug: TEST 4
28 Completed Study to Evaluate the Effects of Kuvan on Individuals With Phenylketonuria (PKU) With Maladaptive Behaviors
Condition: Phenylketonuria
Intervention:
29 Completed 5-Methyltetrahydrofolate Survival and Inflammation in ESRD Patients
Conditions: Mortality;   Hyperhomocysteinemia;   Inflammation
Interventions: Drug: 5-MTHF (5-methyltetrahydrofolate);   Drug: folic acid
30 Recruiting Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency
Condition: Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) Deficiency
Intervention:
31 Enrolling by invitation Observational Study of Endothelial Dysfunction in Phenylketonuria
Conditions: Phenylketonuria;   Endothelial Dysfunction
Intervention:
32 Recruiting Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
Condition: Urea Cycle Disorders
Intervention: Biological: HHLivC
33 Completed Visual Function and Ocular Pigmentation in Albinism
Conditions: Albinism;   Albinism, Ocular;   Albinism, Oculocutaneous
Intervention:
34 Enrolling by invitation Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy
Conditions: Hyperphenylalaninemia;   Phenylketonuria
Intervention: Drug: Sapropterin
35 Completed
Has Results
Study of the Safety of HPN-100 for the Long-Term Treatment of Urea Cycle Disorders (Treat UCD)
Condition: Urea Cycle Disorders
Intervention: Drug: HPN-100
36 Enrolling by invitation Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKU
Condition: Phenylketonuria (PKU)
Interventions: Drug: BMN165 20mg/day;   Drug: BMN165 40mg/day;   Drug: Placebo
37 Terminated Behavioral Effects of Kuvan in Children With Mild Phenylketonuria
Condition: Phenylketonuria
Intervention: Drug: Kuvan
38 Completed Follow-up of Adult Phenylketonuria (PKU) Patients
Conditions: Nutritional Deficiencies;   Phenylketonuria
Intervention:
39 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
40 Terminated A Pilot Study on Diurnal Variation
Condition: Phenylketonuria (PKU)
Intervention: Drug: Kuvan

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Indicates status has not been verified in more than two years