A5065088800- Metabolism and Genetic Disorders
- Pediatric Hepatobiliary Diseases and Treatments
- Epigenetics and DNA Methylation
- Legal Education and Practice Innovations
- Library Collection Development and Digital Resources
- Amino Acid Enzymes and Metabolism
- RNA modifications and cancer
- Scientific Computing and Data Management
- Law, AI, and Intellectual Property
- Folate and B Vitamins Research
Children's Hospital Colorado
2022-2024
University of Colorado Denver
2022-2024
Mitochondrial hepatopathies (MHs) are primary mitochondrial genetic disorders that can present as childhood liver disease. No recognized biomarkers discriminate MH from other diseases. The protein growth differentiation factor 15 (GDF15) and fibroblast 21 (FGF21) differentiate myopathies myopathies. We evaluated these to determine if they diseases in children.
Abstract Nonketotic hyperglycinemia (NKH) is caused by deficient glycine cleavage enzyme activity and characterized elevated brain glycine. Metabolism of connected enzymatically to serine through hydroxymethyltransferase shares transporters with threonine. We aimed evaluate changes in threonine NKH patients, relate this clinical outcome severity. Age‐related reference values were developed for cerebrospinal fluid (CSF) from 274 controls, a cross‐sectional study compared 61 genetically proven...
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