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Results: 1-8 |
Results: 8
Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency
Authors: Johnson, JL Coyne, KE Rajagopalan, KV Van Hove, JLK Mackay, M Pitt, J Boneh, A
Citation: Jl. Johnson et al., Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency, AM J MED G, 104(2), 2001, pp. 169-173
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis
Authors: Grunewald, S Imbach, T Huijben, K Rubio-Gozalbo, ME Verrips, A de Klerk, JBC Stroink, H Andel, JFD Van Hove, JLK Wendel, U Matthijs, G Hennet, T Jaeken, J Wevers, RA
Citation: S. Grunewald et al., Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis, ANN NEUROL, 47(6), 2000, pp. 776-781
Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase defiency
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
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders
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
Acute hydrocephalus in nonketotic hyperglycinemia
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
Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease
Authors: An, Y Young, SP Hillman, SL Van Hove, JLK Chen, YT Millington, DS
Citation: Y. An et al., Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease, ANALYT BIOC, 287(1), 2000, pp. 136-143
Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate
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
One-methyl group metabolism in non-ketotic hyperglycinaemia: Mildly elevated cerebrospinal fluid homocysteine levels
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 |