| Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants PS Kishnani, PC Goldenberg, SL DeArmey, J Heller, D Benjamin, ... Molecular genetics and metabolism 99 (1), 26-33, 2010 | 442 | 2010 |
| Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics PS Kishnani, SL Austin, JE Abdenur, P Arn, DS Bali, A Boney, WK Chung, ... Genetics in Medicine 16 (11), e1-e1, 2014 | 409 | 2014 |
| Genomic amplification with transcript sequencing ES Stoflet, DD Koeberl, G Sarkar, SS Sommer Science 239 (4839), 491-494, 1988 | 392 | 1988 |
| Persistent expression of human clotting factor IX from mouse liver after intravenous injection of adeno-associated virus vectors DD Koeberl, IE Alexander, CL Halbert, DW Russell, AD Miller Proceedings of the National Academy of Sciences 94 (4), 1426-1431, 1997 | 347 | 1997 |
| The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005 DM Frazier, DS Millington, SE McCandless, DD Koeberl, SD Weavil, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2006 | 300 | 2006 |
| Evasion of immune responses to introduced human acid α-glucosidase by liver-restricted expression in glycogen storage disease type II LM Franco, B Sun, X Yang, A Bird, H Zhang, A Schneider, T Brown, ... Molecular Therapy 12 (5), 876-884, 2005 | 191 | 2005 |
| Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene. DD Koeberl, CD Bottema, RP Ketterling, PJ Bridge, DP Lillicrap, ... American journal of human genetics 47 (2), 202, 1990 | 178 | 1990 |
| Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II B Sun, H Zhang, LM Franco, SP Young, A Schneider, A Bird, A Amalfitano, ... Molecular Therapy 11 (1), 57-65, 2005 | 170 | 2005 |
| Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance B Sun, A Bird, SP Young, PS Kishnani, YT Chen, DD Koeberl The American Journal of Human Genetics 81 (5), 1042-1049, 2007 | 134 | 2007 |
| Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter B Sun, H Zhang, LM Franco, T Brown, A Bird, A Schneider, DD Koeberl Molecular Therapy 11 (6), 889-898, 2005 | 124 | 2005 |
| Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG. DD Koeberl, CD Bottema, JM Buerstedde, SS Sommer American journal of human genetics 45 (3), 448, 1989 | 124 | 1989 |
| Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase F Puzzo, P Colella, MG Biferi, D Bali, NK Paulk, P Vidal, F Collaud, ... Science translational medicine 9 (418), eaam6375, 2017 | 119 | 2017 |
| The role of hepatocyte hemojuvelin in the regulation of bone morphogenic protein-6 and hepcidin expression in vivo AS Zhang, J Gao, DD Koeberl, CA Enns Journal of Biological Chemistry 285 (22), 16416-16423, 2010 | 105 | 2010 |
| AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia DD Koeberl, C Pinto, B Sun, S Li, DM Kozink, DK Benjamin, AK Demaster, ... Molecular Therapy 16 (4), 665-672, 2008 | 104 | 2008 |
| Glycogen storage disease types I and II: treatment updates DD Koeberl, PS Kishnani, YT Chen Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2007 | 103 | 2007 |
| Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria CO Harding, MB Gillingham, K Hamman, H Clark, E Goebel-Daghighi, ... Gene therapy 13 (5), 457-462, 2006 | 102 | 2006 |
| Induction of autophagy improves hepatic lipid metabolism in glucose-6-phosphatase deficiency BL Farah, DJ Landau, RA Sinha, ED Brooks, Y Wu, SYS Fung, T Tanaka, ... Journal of hepatology 64 (2), 370-379, 2016 | 100 | 2016 |
| Rare disorders of metabolism with elevated butyryl-and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening DD Koeberl, SP Young, N Gregersen, J Vockley, WE Smith, DK Benjamin, ... Pediatric research 54 (2), 219-223, 2003 | 100 | 2003 |
| Evaluation of 3‐methylcrotonyl‐CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening DD Koeberl, DS Millington, WE Smith, SD Weavil, J Muenzer, ... Journal of inherited metabolic disease 26 (1), 25-35, 2003 | 97 | 2003 |
| Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic CLN3‐and CLN2‐deficient neurons S Dhar, RL Bitting, SN Rylova, PJ Jansen, E Lockhart, DD Koeberl, ... Annals of Neurology: Official Journal of the American Neurological …, 2002 | 96 | 2002 |
