Publications:
A selected list of publications:
Arnold, G.L., Koeberl, D.W., Matern, D., Barshop, B., Braverman, N., Burton, B., Cederbaum, S., Fiegenbaum, A., Garganta, C, Gibson, J., Goodman S.I., Harding, C., Kahler S., Kronn, D., Longo, N. A
Delphi-based consensus clinical practice protocol, for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. ,
Mol. Genet. Metab,
2008; 92:
363-370.
Mumenthaler, S.M., Yu, H., Tze, S., Cederbaum, S.D., Pegg, A.E., Seligson, D.B. and Grody W.W.
Differential expression of arginase II in human prostate cancer and its involvement in polyamine synthesis. ,
Int. J. Oncol,
2008; 32:
357-365.
Crombez, E.A., Cederbaum, S.D., Spector, E., Chan, E., Salazar, D., Neidich, J. and Goodman, S.
Maternal glutaric academia, type I identified by newborn screening,
Mol. Genet. Metab,
2008; 94:
132-134.
Deignan, J.L., Livesay, J.C., Pegg, A.E., O’Brien, W.E., Iyer, R.K., Cederbaum, S.D. and Grody, W.W.
Arginase II deficiency alters polyamine homeostasis through the balance of ODC and OAT expression,
Amer. J. Physiol,
2007; . 293:
C1296-C1301.
Deignan, J.L., Marescau, B., Livesay, J.C., Iyer, R.K., Cederbaum, S.D. and Grody, W.W.
Increased guanidino compounds in brain in a mouse model of hyperargininemia,
Mol. Genet. Metab,
2007;
.
Levy, H., Burton, B., Cederbaum, S. and Scriver C.
Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH4) in phenylketonuria and its use in treatment. ,
Mol. Genet. Metab,
2007; 92:
287-291.
Burton, B.K., Grange, D.K., Milanowski, A., Vockley, G., Feillet, F., Crombez, E.A., Abadie, V., Harding, C.O., Cederbaum, S., Dobbelaere, D., Smith, A. and Dorenbaum, A.
The response of patients with phenylketonuria and elevated serum phenylalanine tp treatment with oral sapropterin (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study,
J. Inher. Metab.Dis. ,
2007; 30:
700-707.
Deignan J.L., Yoo, P.K., Livesay J.C., Goodman S.I., O'Brien, W.E., Iyer, R.K., Cederbaum, S.D. and Grody, W.W.
"Amino acids in arginase double knockout mice demonstrate ornithine auxotrophy",
Mol. Genet. Metab,
2006; 89:
87-96.
Becker-Catania, S.G., Gregory, T.L., Yang, Y., Gau, C-L., de Vellis, J., Cederbaum, S.D. and Iyer, R.K.
"Loss of arginase I results in increased proliferation of neural progenitor cells",
J. Neurosci.Res,
2006; 84:
735-746.
Kern, R.M., Yang, Z., Kim, P.S., Grody, W.W., Iyer, R.K. and Cederbaum, S.D.
Arginase induction by sodium phenylbutyrate in mouse tissues and human cell lines. ,
Mol. Gen. Metab,
2006; 90:
37-41.
Camacho, J.A., Mardach, M.R., Rioseco-Camacho, N.,Ruiz-Pesini, E., Derbeneva, O., Andrade, D., Zaldivar, F., Qu, Y. and Cederbaum, S.D.
Clinical and functional characterization of a human ORNT1mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome,
Pediatr. Res. ,
2006; 60:
423-429.
Schimmenti, L.A., Crombez, E., Schwahn, B.C., Heese, B.A., Wood, T.C., Schroer, R.J., Bentler K., Cederbaum, S., Sarafoglou, K., McCann, M., Rinaldo, P., Matern, D., di San Filippo, C.A., Pasquali, M., Berry, S.A. and Longo, N.
Expanded newborn screening identifies maternal primary carnitine deficiency,
Mol. Genet. Metab,
2006; 90:
441-445.
Mardach, M.R., Verity, M.A. and Cederbaum, S.D.
Myocardial carnitine deficiency associated with cardiomyopathy in a child with propionic acidemia,
Mol Genet Metab,
2005; 85:
286-290.
Svitanovic Sojat, L., Tein, I, Lamhonwah, A-M., De Meirleir, L., Cederbaum, S.D., Jurcic, Z, Mucic-Pucic, B. and Lukanovic-Novak, T.
"Fourteen-year follow up of a girl with primary systemic carnitine due to a carnitine transporter defect and OCTN2 mutation",
Paediatr. Croat. 47,
2003;
83-86.
Gobin, S Bonnefont, JP Prip-Buus, C Mugnier, C Ferrec, M Demaugre, F Saudubray, JM Rostane, H Djouadi, F Wilcox, W Cederbaum, S Haas, R Nyhan, WL Green, A Gray, G Girard, J Thuillier, L
Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia
Human genetics. ,
2002; 111(2):
179-89.
Iyer, RK Yoo, PK Kern, RM Rozengurt, N Tsoa, R O'Brien, WE Yu, H Grody, WW Cederbaum, SD
Mouse model for human arginase deficiency
Molecular and cellular biology. ,
2002; 22(13):
4491-8.
Mardach, R., Zempleni, J., Wolf, B., Cannon, M.J., Jennings, M.L., Cress, S., Boylan, J., Roth, S., Cederbaum, S. and Mock, D.
"Biotin dependency due to a defect in biotin transport",
J. Clin. Invest. 109,
2002;
1617-1623.
Nguyen, TV Andresen, BS Corydon, TJ Ghisla, S Abd-El Razik, N Mohsen, AW Cederbaum, SD Roe, DS Roe, CR Lench, NJ Vockley, J
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans
Molecular genetics and metabolism. ,
2002; 77(1-2):
68-79.
Kim, PS Iyer, RK Lu, KV Yu, H Karimi, A Kern, RM Tai, DK Cederbaum, SD Grody, WW
Expression of the liver form of arginase in erythrocytes
Molecular genetics and metabolism. ,
2002; 76(2):
100-10.
Gobert, AP Cheng, Y Wang, JY Boucher, JL Iyer, RK Cederbaum, SD Casero, RA Newton, JC Wilson, KT
Helicobacter pylori induces macrophage apoptosis by activation of arginase II
Journal of immunology (Baltimore, Md. : 1950) ,
2002; 168(9):
4692-700.