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  • : Amino Acid Metabolism, Inborn Errors

Amino Acid Metabolism, Inborn Errors - 53 Studies Found

Completed : Research on the Role of SLC1A5 in the Development of Esophageal Cancer
:
  • Esophageal Cancer
  • Amino Acid Transport Disorder

: 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
:
  • Molybdenum Cofactor Deficiency
  • Isolated Sulfite Oxidase Deficiency

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

: 2000-07-05
: Drug: phosphatidylcholine
Completed : EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment
:
  • Methylmalonic Aciduria and Homocystinuria,Cblc Type
  • Genetic Disease
  • Drug: Epi-743 EPI- 743 in caps

Completed : Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency
:
  • Metabolic Disease
  • Seizures

: 2013-12-20
:
  • Drug: SGS-742
  • Drug: Placebo

Not yet recruiting : Evaluation of PKU Explore
:
  • Phenylketonuria
  • Inborn Errors of Metabolism

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

: 2017-05-22
:
  • Dietary Supplement: Synergy Sm

Completed : Impact of Phenylketonuria-type Diet on Appetite, Appetite Hormones and Diet Induced Thermogenesis
: Phenylketonuria (PKU)
: 2015-04-30
:
  • Dietary Supplement: Phenylketonuria-type diet

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

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

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