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Clinical Studies
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Closed for Enrollment
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Cardiolipin Profiling for Barth Syndrome Screening and Characterization (CPfBSSaC)
Rochester, Minn.
The purpose of this study is to investigate whether a new high-resolution analysis of MLCL and/or CL can uncover additional CL subspecies that enhance sensitivity of this ratio or improve the signal-to-noise than previously published studies.
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Development and Validation of Clinical Molecular Genetic Assays Associated with Metabolic Disorders and Publication of the Developed Methodologies
Rochester, Minn.
The aim of this research study is to develop and validate several clinical molecular genetic lab tests for the confirmation of biochemical genetic test results.
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Development and Validation of Disaccharidase Determination from Small Bowel Biopsy Specimens.
Rochester, Minn.
The purpose of this study is to prospectively collect a microscopic biopsy from individuals who have a clinical suspicion of a possible gastrointestinal disaccharidase deficiency, and to develop and validate clinical enzymatic assays for intestinal disaccharidase lactase, palatinase, sucrase, maltase, or glucoamylase (Disaccharidase Enzyme Panel) in order to detect deficiencies in these enzymes, thereby benefiting the diagnosis of gastrointestinal disorders at Mayo Clinic.
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Individualized Medicine Biobank for Mitochondrial Diseases
Rochester, Minn.
The Mitochondrial Disease Biobank is a place to store blood and tissue samples from people with symptoms of mitochondrial disease. Health information about each donor will be attached to the samples.
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