Found 2 clinical trials
GSD IX Natural History Study
Data will be collected from medical charts including, but not limited to: physical examinations, imaging studies, review of systems, age of diagnosis, quality of life surveys, growth delay assessment, metabolic control, dietary analysis, urine and blood labs, muscle strength, lab test results, biopsy specimens, gene sequencing, oligosaccharide and ketone analysis …
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- 16 Feb, 2024
- 1 location
Gene Mutation Spectrum of Malignant Hyperthermia in China
In this study, case information and specimens of patients with malignant hyperthermia(MH) will be collected from all over China, and gene fragment analysis, sanger sequencing method and/or high-throughput whole-genome sequencing will be performed. The MH bioinformatics database will be established to find the pathogenic gene and mutation site of MH …
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- 05 Aug, 2020