Search Results - "Leydiker, K."

Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California by Gallant, N.M., Leydiker, K., Wilnai, Y., Lee, C., Lorey, F., Feuchtbaum, L., Tang, H., Carter, J., Enns, G.M., Packman, S., Lin, H.J., Wilcox, W.R., Cederbaum, S.D., Abdenur, J.E.

“…Carnitine transporter defect (CTD; also known as systemic primary carnitine deficiency; MIM 212140) is due to mutations in the SLC22A5 gene and leads to…”
Get full text

Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening by Leydiker, K.B., Neidich, J.A., Lorey, F., Barr, E.M., Puckett, R.L., Lobo, R.M., Abdenur, J.E.

“…Prior to the advent of expanded newborn screening, sudden and unexplained death was often the first and only symptom of medium-chain acyl-CoA dehydrogenase…”
Get full text