Search Results - "Lipson, M.H."

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase by Dimmock, D.P, Zhang, Q, Dionisi-Vici, C, Carrozzo, R, Shieh, J, Tang, L.Y, Truong, C, Schmitt, E, Sifry-Platt, M, Lucioli, S, Santorelli, F.M, Ficicioglu, C.H, Rodriguez, M, Wierenga, K, Enns, G.M, Longo, N, Lipson, M.H, Vallance, H, Craigen, W.J, Scaglia, F, Wong, L.J

“…Published mutations in deoxyguanosine kinase (DGUOK) cause mitochondrial DNA depletion and a clinical phenotype that consists of neonatal liver failure,…”
Get full text

Maple syrup urine disease: Further evidence that newborn screening may fail to identify variant forms by Puckett, R.L., Lorey, F., Rinaldo, P., Lipson, M.H., Matern, D., Sowa, M.E., Levine, S., Chang, R., Wang, R.Y., Abdenur, J.E.

“…Newborn screening (NBS) by tandem mass spectrometry (MS/MS) has allowed for early detection and initiation of treatment in many patients with maple syrup urine…”
Get full text