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AMPD2, OMIM *102771, Spastic Paraplegia 63; Pontocerebellar Hypoplasia Clinical Trials in Bethesda, Maryland

1 recruitingBethesda, Maryland

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

Metabolic DiseaseAMPD3, OMIM*102772, AMP Deaminase DeficiencyAK1, OMIM *103000, Adenylate Kinase Deficiency+25 more
National Human Genome Research Institute (NHGRI)999 enrolled1 locationNCT06092346