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Amino Acid Metabolism, Inborn Errors - 53 Studies Found

Estado Estudiar
Completed Nombre del estudio: Research on the Role of SLC1A5 in the Development of Esophageal Cancer
Condición:
  • Esophageal Cancer
  • Amino Acid Transport Disorder

Fecha: 2015-12-06
Intervenciones: Other: SLC1A5 expression To observe the expression of SLC1A5 by immunohistochemistry and WesternBlot ana
Completed Nombre del estudio: A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies
Condición:
  • Molybdenum Cofactor Deficiency
  • Isolated Sulfite Oxidase Deficiency

Fecha: 2012-11-26
Completed Nombre del estudio: Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency
Condición:
  • Methionine Adenosyltransferase Deficiency
  • Metabolism, Inborn Errors

Fecha: 2000-07-05
Intervenciones: Drug: phosphatidylcholine
Completed Nombre del estudio: EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment
Condición:
  • Methylmalonic Aciduria and Homocystinuria,Cblc Type
  • Genetic Disease
  • Drug: Epi-743 EPI- 743 in caps
Completed Nombre del estudio: Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency
Condición:
  • Metabolic Disease
  • Seizures

Fecha: 2013-12-20
Intervenciones:
  • Drug: SGS-742
  • Drug: Placebo
Not yet recruiting Nombre del estudio: Evaluation of PKU Explore
Condición:
  • Phenylketonuria
  • Inborn Errors of Metabolism

Fecha: 2017-05-24
Intervenciones: Dietary Supplement: PKU Explore PKU Explore is an unflavoured, powdered, phenylalanine-free, protein sub
Enrolling by invitation Nombre del estudio: Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninemia
Condición:
  • Phenylketonurias
  • Hyperphenylalaninaemia, Type I

Fecha: 2017-05-22
Intervenciones:
  • Dietary Supplement: Synergy Sm
Completed Nombre del estudio: Impact of Phenylketonuria-type Diet on Appetite, Appetite Hormones and Diet Induced Thermogenesis
Condición: Phenylketonuria (PKU)
Fecha: 2015-04-30
Intervenciones:
  • Dietary Supplement: Phenylketonuria-type diet

Active, not recruiting Nombre del estudio: PKU Kuvan Imaging Study
Condición: Phenylketonuria
Fecha: 2014-11-19
Completed Nombre del estudio: Antioxidant Signature in Adult Patients With Phenylketonuria
Condición:
  • PKU
  • Hyperphenylalaninemia

Fecha: 2014-07-28
Intervenciones:
  • Other: Blood sample Blood samp
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