163 studies found for:    "N-acetylglutamate synthase deficiency" OR "Amino Acid Metabolism, Inborn Errors"
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Rank Status Study
21 Active, not recruiting Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
Conditions: Urea Cycle Disorders;   Carbamoylphosphate Synthetase I Deficiency;   Ornithine Transcarbamylase Deficiency;   Citrullinemia
Intervention: Biological: Human Heterologous Liver Cells
22 Completed Does B Vitamin Supplementation Decrease Homocysteine Concentrations in Newborns
Condition: Mild Hyperhomocysteinemia
Intervention: Drug: 5-formyltetrahydrofolate (10 mg/ml) (Pharmachemie bv)
23 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
24 Recruiting Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)
Condition: Urea Cycle Disorder
Intervention:
25 Completed Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type I
Condition: Tyrosinemia, Type I
Intervention: Drug: NTBC
26 Completed Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I)
Condition: Citrullinemia
Intervention: Other: stable isotope infusion
27 Completed
Has Results
Taste and Palatability of Orfadin Suspension
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
28 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
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 Protein Requirements in Children With Phenylketonuria (PKU)
Condition: Phenylketonuria
Intervention: Dietary Supplement: Protein intake
31 Completed Biotin Deficiency and Restless Legs Syndrome
Conditions: End Stage Renal Disease;   Restless Legs Syndrome
Interventions: Dietary Supplement: Biotin Supplementation;   Dietary Supplement: Sugar Pill
32 Approved for marketing Sapropterin Expanded Access Program
Condition: Phenylketonuria
Intervention: Drug: Sapropterin dihydrochloride
33 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:
34 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
35 Completed Homocysteine and Progression of Atherosclerosis
Conditions: Cardiovascular Diseases;   Peripheral Vascular Diseases;   Atherosclerosis;   Cerebrovascular Disorders;   Myocardial Infarction;   Heart Diseases;   Hyperhomocysteinemia
Intervention:
36 Recruiting Long Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical Care
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
37 Completed Prevalence Of Hyperhomocysteinemia In Thai Chronic Kidney Disease (CKD) Patients
Conditions: Cardiovascular Disease;   Hyperhomocysteinemia
Intervention:
38 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
39 Completed The Effect of Supplemental Docosahexaenoic Acid (DHA) on Neurocognitive Outcomes in Teen and Adult Women With Phenylketonuria(PKU)
Condition: Phenylketonuria
Interventions: Dietary Supplement: Docosahexaenoic Acid;   Dietary Supplement: Corn/soy oil
40 Not yet recruiting Suitability of Nitisinone in Alkaptonuria 2
Condition: Alkaptonuria
Intervention: Drug: Nitisinone

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Indicates status has not been verified in more than two years