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Hypotonia-Cystinuria Syndrome
Clinical trial pipeline · Data from ClinicalTrials.gov
See which Hypotonia-Cystinuria Syndrome trials may be worth asking aboutClinical trial pipeline · Data from ClinicalTrials.gov
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Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients
The investigators will evaluate whether sulfamethoxazole, a sulfamide antibiotic, improves the symptoms of primary PREPL deficiency (hypotonia-cystinuria syndro…