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Results: 1-8 |
Results: 8

Authors: Smith, WE Kahler, SG Frush, DP Milov, DE Gottfried, MR Chen, YT
Citation: We. Smith et al., Hepatic storage of glycogen in Niemann-Pick disease type B, J PEDIAT, 138(6), 2001, pp. 946-948

Authors: Kirby, DM Kahler, SG Freckmann, ML Reddihough, D Thorburn, DR
Citation: Dm. Kirby et al., Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families, ANN NEUROL, 48(1), 2000, pp. 102-104

Authors: Van Hove, JLK Kahler, SG Feezor, MD Ramakrishna, JP Hart, P Treem, WR Shen, JJ Matern, D Millington, DS
Citation: Jlk. Van Hove et al., Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase defiency, J INH MET D, 23(6), 2000, pp. 571-582

Authors: Shen, JJ Matern, D Millington, DS Hillman, S Feezor, MD Bennett, MJ Qumsiyeh, M Kahler, SG Chen, YT Van Hove, JLK
Citation: Jj. Shen et al., Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders, J INH MET D, 23(1), 2000, pp. 27-44

Authors: Van Hove, JLK Kishnani, PS Demaerel, P Kahler, SG Miller, C Jaeken, J Rutledge, SL
Citation: Jlk. Van Hove et al., Acute hydrocephalus in nonketotic hyperglycinemia, NEUROLOGY, 54(3), 2000, pp. 754-756

Authors: Kahler, SG
Citation: Sg. Kahler, Galactosaemia in Chinese, J PAEDIAT C, 35(4), 1999, pp. 339-340

Authors: Ahmad, A Kahler, SG Kishnani, PS Artigas-Lopez, M Pappu, AS Steiner, R Millington, DS Van Hove, JLK
Citation: A. Ahmad et al., Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate, AM J MED G, 87(4), 1999, pp. 331-338

Authors: Van Hove, JLK Lazeyras, F Zeisel, SH Bottiglieri, T Hyland, K Charles, HC Gray, L Jaeken, J Kahler, SG
Citation: Jlk. Van Hove et al., One-methyl group metabolism in non-ketotic hyperglycinaemia: Mildly elevated cerebrospinal fluid homocysteine levels, J INH MET D, 21(8), 1998, pp. 799-811
Risultati: 1-8 |