Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the ...
2. The gene panel sequencing identified 59 patients undetected by biochemical tests, including 20 patients affected by biochemically and genetically screened disorders and 39 patients affected by ...
"Our findings really shake the boat of conventional thinking about hemochromatosis, and are understandably disturbing to self-help groups pushing for universal genetic, as opposed to biochemical, ...
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