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Found 57 studies with search of: "citrullinemia" OR "Amino Acid Metabolism, Inborn Errors"
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1 Recruiting Human Heterologous Liver Cells for Infusion in Newborns With Urea Cycle Disorders
Conditions: Urea Cycle Disorders;   Carbamoylphosphate Synthetase I Deficiency Disease;   Ornithine Transcarbamylase Deficiency Disease;   Citrullinemia
Intervention: Biological: Human Heterologous Liver Cells
2 Recruiting Citrulline Allo. Evaluation of Citrullinemia as a Marker of Bowel Damage After Allogeneic Bone Marrow Transplantation in Children
Condition: Benign Disease
Intervention:
3 Recruiting Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder
Conditions: Argininosuccinic Aciduria;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Interventions: Drug: Sodium Phenylbutyrate (Buphenyl-TM);   Drug: Arginine
4 Recruiting Study of Treatment and Metabolism in Patients With Urea Cycle Disorders
Condition: Amino Acid Metabolism, Inborn Errors
Interventions: Behavioral: Protein and calorie controlled diet;   Gene Transfer: Ornithine transcarbamylase vector
5 Recruiting Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Intervention:
6 Completed Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Intervention for Urea Cycle Disorders
Condition: Amino Acid Metabolism, Inborn Errors
Interventions: Drug: Sodium Benzoate;   Drug: Sodium Phenylacetate;   Drug: Sodium Phenylbutyrate;   Behavioral: Dietary Intervention
7 Completed Study of BH4, a New and Simple Treatment of Mild PKU
Condition: Phenylketonuria
Intervention: Drug: 5,6,7,8-tetrahydrobiopterin
8 Active, not recruiting The Early History of Universal Screening for Metabolic Disorders
Conditions: Phenylketonuria;   Galactosemia;   Inborn Errors of Metabolism
Intervention:
9 Recruiting Effect of S-Adenosylmethionine (SAMe) on Blood Levels of Homocysteine
Condition: Hyperhomocysteinemia
Intervention: Drug: S-adenosylmethionine (SAMe)
10 Recruiting Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response
Condition: Phenylketonuria
Intervention: Drug: Kuvan
11 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
12 Recruiting PKUDOS: PKU Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Sapropterin Dihydrochloride
13 Recruiting Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
Conditions: Albinism;   Oculocutaneous Albinism;   Foveal Hypoplasia;   Hypopigmentation;   Nystagmus
Intervention:
14 Recruiting Study of Alkaptonuria
Condition: Alkaptonuria
Intervention:
15 Completed Homocystinuria: Treatment With N-Acetylcysteine
Condition: Homocystinuria
Intervention: Drug: N-acetylcysteine
16 Completed A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenylalanine Levels
Condition: Phenylketonurias
Intervention: Drug: sapropterin dihydrochloride
17 Recruiting Response to Phenylketonuria to Tetrahydrobiopterin (BH4)
Condition: Phenylketonuria
Intervention: Drug: tetrahydrobiopterin (BH4)
18 Recruiting Hyperphenylalaninemia in Cerebral Malaria
Condition: Plasmodium Falciparum Malaria
Intervention:
19 Not yet recruiting Biotin Status in Pregnancy
Condition: Biotin Deficiency
Interventions: Dietary Supplement: biotin;   Dietary Supplement: biotin
20 Terminated Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety
Condition: Phenylalanine Hydroxylase Deficiencies
Intervention: Drug: tetrahydrobiopterin (BH4)

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