157 studies found for:    "citrullinemia" OR "Amino Acid Metabolism, Inborn Errors"
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Rank Status Study
21 Recruiting A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies
Condition: Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies
Intervention: Other: No treatment
22 Active, not recruiting EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment
Conditions: Methylmalonic Aciduria and Homocystinuria,Cblc Type;   Genetic Disease;   Retinopathy
Interventions: Drug: Epi-743;   Other: Placebo supplementation
23 Completed Study of BH4, a New and Simple Treatment of Mild PKU
Condition: Phenylketonuria
Intervention: Drug: 5,6,7,8-tetrahydrobiopterin
24 Unknown  The Early History of Universal Screening for Metabolic Disorders
Conditions: Phenylketonuria;   Galactosemia;   Inborn Errors of Metabolism
Intervention:
25 Completed Effect of S-adenosylmethionine (SAMe) on Blood Levels of Homocysteine
Condition: Hyperhomocysteinemia
Intervention: Dietary Supplement: S-adenosylmethionine
26 Completed Dose-Escalation Safety Study of HPN-100 to Treat Urea Cycle Disorders
Condition: Urea Cycle Disorders
Intervention: Drug: HPN-100
27 Unknown  Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response
Condition: Phenylketonuria
Intervention: Drug: Kuvan
28 Recruiting Liver Cell Transplant for Phenylketonuria
Condition: Phenylketonuria
Interventions: Radiation: Preparative Radiation Therapy;   Procedure: Hepatocyte Transplant;   Drug: Immunosuppression;   Other: Liver Evaluation
29 Recruiting Comparative Efficacy of Phenylbutyrate vs. Benzoate in Urea Cycle Disorders
Conditions: Urea Cycle Disorders;   Ornithine Transcarbamylase Deficiency
Interventions: Drug: Sodium Benzoate;   Drug: Sodium Phenylbutyrate
30 Active, not recruiting Long-Term Extension of a Dose Finding Study to Evaluate the Safety, Efficacy, and Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With Phenylketonuria (PKU) (PAL-003)
Condition: Phenylketonuria
Intervention: Drug: rAvPAL-PEG
31 Enrolling by invitation Observational Study of Endothelial Dysfunction in Phenylketonuria
Conditions: Phenylketonuria;   Endothelial Dysfunction
Intervention:
32 Enrolling by invitation Simple Breath Test to Examine Phenylalanine Metabolism
Condition: Phenylketonuria (PKU)
Intervention:
33 Completed Uremic Hyperhomocysteinemia -A Folate Trial for Possible Prevention of Cardiovascular Events
Conditions: Uremia;   Chronic Renal Failure;   Hemodialysis;   Hyperhomocysteinemia;   Cardiovascular Disease
Intervention: Drug: folate treatment
34 Recruiting PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Sapropterin Dihydrochloride
35 Recruiting Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
Conditions: Albinism;   Oculocutaneous Albinism;   Foveal Hypoplasia;   Hypopigmentation;   Nystagmus
Intervention:
36 Active, not recruiting Kuvan® in Phenylketonuria Patients Less Than 4 Years Old
Condition: Phenylketonuria
Interventions: Drug: Kuvan®;   Other: Phenylalanine (Phe)-restricted diet
37 Recruiting Moderate Intensity Exercise and Phenylketonuria
Conditions: Phenylketonuria;   PKU
Intervention: Other: Acute Moderate Intensity Exercise
38 Recruiting Study of Alkaptonuria
Condition: Alkaptonuria
Intervention:
39 Withdrawn The Effects of Sapropterin Dihydrochloride Supplementation on in Vivo Redox Status in Patients With Classical PKU
Condition: Classical Phenylketonuria(PKU)
Intervention:
40 Completed Supplementary Vitamin B12 Effects on Elevated Homocysteine Levels of Vegetarians - Clinical Trial
Condition: Vitamin B12 Deficiency
Interventions: Dietary Supplement: Inactive lozenge;   Dietary Supplement: Methylcobalamin

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Indicates status has not been verified in more than two years