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.
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.
Cederbaum, SD New frontiers in hereditary metabolic disease: An historical perspective..
Mol. Genet. Metab..
2006;
In press:
.
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.
Yu, H Iyer, RK Yoo, PK Kern, RM Grody, WW Cederbaum, SD Arginase expression in mouse embryonic development..
Mechanisms of development. .
2002;
115(1-2):
151-5.
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.
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.