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Results: 1-25 | 26-31
Results: 1-25/31
Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia
Authors: Wilson, CJ Lee, PJ Leonard, JV
Citation: Cj. Wilson et al., Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia, J INH MET D, 24(7), 2001, pp. 691-695
The management of organic acidaemias: The role of transplantation
Authors: Leonard, JV Walter, JH McKiernan, PJ
Citation: Jv. Leonard et al., The management of organic acidaemias: The role of transplantation, J INH MET D, 24(2), 2001, pp. 309-311
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Clinicalcourse and description of causal mutations in two patients
Authors: Bouchard, L Robert, MF Vinarov, D Stanley, CA Thompson, GN Morris, A Leonard, JV Quant, P Hsu, BYL Boneh, A Boukaftane, Y Ashmarina, L Wang, SP Miziorko, H Mitchell, GA
Citation: L. Bouchard et al., Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Clinicalcourse and description of causal mutations in two patients, PEDIAT RES, 49(3), 2001, pp. 326-331
Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit
Authors: Williams, SL Scholte, HR Gray, RGF Leonard, JV Schapira, AHV Taanman, JW
Citation: Sl. Williams et al., Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit, LAB INV, 81(8), 2001, pp. 1069-1077
The nutritional management of urea cycle disorders
Authors: Leonard, JV
Citation: Jv. Leonard, The nutritional management of urea cycle disorders, J PEDIAT, 138(1), 2001, pp. S40-S44
Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Authors: Lund, AM Leonard, JV
Citation: Am. Lund et Jv. Leonard, Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, ARCH DIS CH, 85(6), 2001, pp. 487-488
Mitochondrial DNA point mutation T9176C in Leigh syndrome
Authors: Wilson, CJ Wood, NW Leonard, JV Surtees, R Rahman, S
Citation: Cj. Wilson et al., Mitochondrial DNA point mutation T9176C in Leigh syndrome, J CHILD NEU, 15(12), 2000, pp. 830-833
Improving the outcome for fatty acid oxidation disorders
Authors: Morris, AAM Leonard, JV
Citation: Aam. Morris et Jv. Leonard, Improving the outcome for fatty acid oxidation disorders, J PED GASTR, 31(4), 2000, pp. 367-370
Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia
Authors: Wilson, CJ Van Wyk, KG Leonard, JV Clayton, PT
Citation: Cj. Wilson et al., Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia, J INH MET D, 23(7), 2000, pp. 677-683
Early onset of complete heart block in Pearson syndrome
Authors: Rahman, S Leonard, JV
Citation: S. Rahman et Jv. Leonard, Early onset of complete heart block in Pearson syndrome, J INH MET D, 23(7), 2000, pp. 753-754
False positive fructose loading: a pitfall in the diagnosis of fructose-1,6-bisphosphatase deficiency
Authors: Lund, AM Leonard, JV
Citation: Am. Lund et Jv. Leonard, False positive fructose loading: a pitfall in the diagnosis of fructose-1,6-bisphosphatase deficiency, J INH MET D, 23(6), 2000, pp. 634-635
Inborn errors of metabolism around time of birth
Authors: Leonard, JV Morris, AAM
Citation: Jv. Leonard et Aam. Morris, Inborn errors of metabolism around time of birth, LANCET, 356(9229), 2000, pp. 583-587
Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects
Authors: Leonard, JV Schapira, AHV
Citation: Jv. Leonard et Ahv. Schapira, Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects, LANCET, 355(9201), 2000, pp. 389-394
Mitochondrial respiratory chain disorders I: mitochondrial DNA defects
Authors: Leonard, JV Schapira, AHV
Citation: Jv. Leonard et Ahv. Schapira, Mitochondrial respiratory chain disorders I: mitochondrial DNA defects, LANCET, 355(9200), 2000, pp. 299-304
The effects of L-alanine supplementation in late-onset glycogen storage disease type II
Authors: Bodamer, OAF Halliday, D Leonard, JV
Citation: Oaf. Bodamer et al., The effects of L-alanine supplementation in late-onset glycogen storage disease type II, NEUROLOGY, 55(5), 2000, pp. 710-712
Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: Results of the European Study on Glycogen Storage Disease Type I
Authors: Visser, G Rake, JP Fernandes, J Labrune, P Leonard, JV Moses, S Ullrich, K Smit, GPA
Citation: G. Visser et al., Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: Results of the European Study on Glycogen Storage Disease Type I, J PEDIAT, 137(2), 2000, pp. 187-191
Resting energy expenditure in disorders of propionate metabolism
Authors: Feillet, F Bodamer, OAF Dixon, MA Sequeira, S Leonard, JV
Citation: F. Feillet et al., Resting energy expenditure in disorders of propionate metabolism, J PEDIAT, 136(5), 2000, pp. 659-663
Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms
Authors: Rahman, S Lake, BD Taanman, JW Hanna, MG Cooper, JM Schapira, AHV Leonard, JV
Citation: S. Rahman et al., Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms, BRAIN, 123, 2000, pp. 591-600
Natural history of glutaric aciduria type 1
Authors: Collins, J Leonard, JV
Citation: J. Collins et Jv. Leonard, Natural history of glutaric aciduria type 1, ARCH DIS CH, 83(1), 2000, pp. 90-90
The Putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a
Authors: Veiga-Da-Cunha, M Gerin, I Chen, YT Lee, PJ Leonard, JV Maire, I Wendel, U Vikkula, M Van Schaftingen, E
Citation: M. Veiga-da-cunha et al., The Putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a, EUR J HUM G, 7(6), 1999, pp. 717-723
Necrotizing encephalopathy and macrocephaly with mitochondrial complex I deficiency
Authors: Feillet, F Mousson, B Grignon, Y Leonard, JV Vidailhet, M
Citation: F. Feillet et al., Necrotizing encephalopathy and macrocephaly with mitochondrial complex I deficiency, PED NEUROL, 20(4), 1999, pp. 305-308
Liver transplantation for methylmalonic acidaemia
Authors: van't Hoff, W McKiernan, PJ Surtees, RAH Leonard, JV
Citation: W. Van'T Hoff et al., Liver transplantation for methylmalonic acidaemia, EUR J PED, 158, 1999, pp. S70-S74
Blood lipids and endothelial function in glycogen storage disease type III
Authors: Hershkovitz, E Donald, A Mullen, M Lee, PJ Leonard, JV
Citation: E. Hershkovitz et al., Blood lipids and endothelial function in glycogen storage disease type III, J INH MET D, 22(8), 1999, pp. 891-898
Recurrent rhabdomyolysis in a child with glutaric aciduria type I
Authors: Wilson, CJ Collins, JE Leonard, JV
Citation: Cj. Wilson et al., Recurrent rhabdomyolysis in a child with glutaric aciduria type I, J INH MET D, 22(5), 1999, pp. 663-664
Glutaric aciduria and suspected child abuse
Authors: Morris, AAM Hoffmann, GF Naughten, ER Monavari, AA Collins, JE Leonard, JV
Citation: Aam. Morris et al., Glutaric aciduria and suspected child abuse, ARCH DIS CH, 80(5), 1999, pp. 404-405
Risultati: 1-25 | 26-31