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Results for “Phosphorylase Kinase Deficiency”

3 trials

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Showing 3 of 3 results

Not applicableLooking for participantsNCT04454216
What this trial is testing

GSD VI and GSD IX Natural History

Who this might be right for
Glycogen Storage Disease VIGLYCOGEN STORAGE DISEASE IXa1GLYCOGEN STORAGE DISEASE IXa2+4 more
Duke University 400
Not applicableLooking for participantsNCT06092346
What this trial is testing

A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

Who this might be right for
AMPD3, OMIM*102772, AMP Deaminase DeficiencyAK1, OMIM *103000, Adenylate Kinase DeficiencyAMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency+25 more
National Human Genome Research Institute (NHGRI)
Not applicableUnknownNCT02635269
What this trial is testing

Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy

Who this might be right for
Metabolism, Inborn ErrorsLipid Metabolism, Inborn ErrorsCarbohydrate Metabolism, Inborn Errors+20 more
Rigshospitalet, Denmark 60
999