Enhanced interpretation of newborn screening results without analyte cutoff valuesGregg Marquardt, Vagelis Papakonstantinou, Robert J. Currier et al.|Genetics in Medicine|2012Cited by 123
Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and GenomicsJ. Daniel Sharer, Sarah P. Young, Olaf A. Bodamer et al.|Genetics in Medicine|2017Cited by 38
Comparison of psychosine analysis in dried blood spots and red blood cells in Krabbe diseaseAmy White, Dietrich Matern, April Studinski et al.|Molecular Genetics and Metabolism|2021Cited by 0