165 studies found for:    "citrullinemia" OR "Amino Acid Metabolism, Inborn Errors"
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Rank Status Study
21 Withdrawn Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate
Conditions: Urea Cycle Disorders, Inborn;   Inborn Errors of Metabolism;   Propionic Acidemia;   Methylmalonic Acidemia;   Carbamyl Phosphate Synthetase Deficiency
Intervention: Drug: N-carbamylglutamate
22 Recruiting Clinical and Laboratory Study of Methylmalonic Acidemia
Conditions: Amino Acid Metabolism;   Inborn Errors
Intervention:
23 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
24 Recruiting An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165
Condition: Phenylketonuria
Intervention: Drug: BMN 165
25 Completed Does B Vitamin Supplementation Decrease Homocysteine Concentrations in Newborns
Condition: Mild Hyperhomocysteinemia
Intervention: Drug: 5-formyltetrahydrofolate (10 mg/ml) (Pharmachemie bv)
26 Recruiting A Multicenter Trial of Non-cultured Epidermal Cellular Grafting Versus Hyaluronic Acid for Repigmenting Stable Leukoderma (Vitiligo and Piebaldism)
Conditions: Vitiligo;   Piebaldism
Interventions: Device: VITICELL;   Device: PLACEBO
27 Recruiting Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)
Condition: Urea Cycle Disorder
Intervention:
28 Completed Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type I
Condition: Tyrosinemia, Type I
Intervention: Drug: NTBC
29 Completed
Has Results
Taste and Palatability of Orfadin Suspension
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
30 Completed
Has Results
Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006
Condition: Phenylketonuria
Intervention: Drug: sapropterin dihydrochloride
31 Completed 5-Methyltetrahydrofolate Survival and Inflammation in ESRD Patients
Conditions: Mortality;   Hyperhomocysteinemia;   Inflammation
Interventions: Drug: 5-MTHF (5-methyltetrahydrofolate);   Drug: folic acid
32 Recruiting Protein Requirements in Children With Phenylketonuria (PKU)
Condition: Phenylketonuria
Intervention: Dietary Supplement: Protein intake
33 Completed Biotin Deficiency and Restless Legs Syndrome
Conditions: End Stage Renal Disease;   Restless Legs Syndrome
Interventions: Dietary Supplement: Biotin Supplementation;   Dietary Supplement: Sugar Pill
34 Approved for marketing Sapropterin Expanded Access Program
Condition: Phenylketonuria
Intervention: Drug: Sapropterin dihydrochloride
35 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:
36 Completed
Has Results
Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet
Condition: Phenylketonurias
Interventions: Drug: Sapropterin Dihydrochloride;   Drug: Placebo
37 Completed Homocysteine and Progression of Atherosclerosis
Conditions: Cardiovascular Diseases;   Peripheral Vascular Diseases;   Atherosclerosis;   Cerebrovascular Disorders;   Myocardial Infarction;   Heart Diseases;   Hyperhomocysteinemia
Intervention:
38 Recruiting Long Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical Care
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
39 Completed Prevalence Of Hyperhomocysteinemia In Thai Chronic Kidney Disease (CKD) Patients
Conditions: Cardiovascular Disease;   Hyperhomocysteinemia
Intervention:
40 Active, not recruiting Dose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With PKU
Condition: Phenylketonuria
Intervention: Drug: rAvPAL-PEG

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Indicates status has not been verified in more than two years