Amino Acid Metabolism, Inborn Errors - 192 Studies Found
Completed |
: Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency :
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Recruiting |
: Research on the Role of SLC1A5 in the Development of Esophageal Cancer :
: 2015-12-06 : Other: SLC1A5 expression To observe the expression of SLC1A5 by immunohistochemistry and WesternBlot ana |
Completed |
: A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies :
: 2012-11-26 |
Recruiting |
: Clinical and Laboratory Study of Methylmalonic Acidemia :
: 2004-02-18 |
Completed |
: Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency :
: 2000-07-05 : Drug: phosphatidylcholine |
Active, not recruiting |
: Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia :
: 2015-04-22 : Drug: Carglumic Acid Carglumic Acid 50 mg/kg/day (twice daily) |
Completed |
: EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment :
|
Terminated |
: Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia :
: 2012-05-10 :
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Recruiting |
: Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency :
: 2013-12-20 :
|
Recruiting |
: Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia : Metabolic Disease : 2016-09-03 |