AAAAAA

   
Results: 1-8 |
Results: 8
Hyperammonemia in urea cycle disorders: Role of the nephrologist
Authors: Mathias, RS Kostiner, D Packman, S
Citation: Rs. Mathias et al., Hyperammonemia in urea cycle disorders: Role of the nephrologist, AM J KIDNEY, 37(5), 2001, pp. 1069-1080
A case of PDH-E-1 alpha mosaicism in a male patient with severe metabolic lactic acidosis
Authors: Seyda, A Chun, K Packman, S Robinson, BH
Citation: A. Seyda et al., A case of PDH-E-1 alpha mosaicism in a male patient with severe metabolic lactic acidosis, J INH MET D, 24(5), 2001, pp. 551-559
Clinical course and biochemistry of sialuria
Authors: Enns, GM Seppala, R Musci, TJ Weisiger, K Ferrell, LD Wenger, DA Gahl, WA Packman, S
Citation: Gm. Enns et al., Clinical course and biochemistry of sialuria, J INH MET D, 24(3), 2001, pp. 328-336
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency
Authors: Baumgartner, MR Almashanu, S Suormala, T Obie, C Cole, RN Packman, S Baumgartner, ER Valle, D
Citation: Mr. Baumgartner et al., The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency, J CLIN INV, 107(4), 2001, pp. 495-504
Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Authors: Enns, GM Bennett, MJ Hoppel, CL Goodman, SI Weisiger, K Ohnstad, C Golabi, M Packman, S
Citation: Gm. Enns et al., Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, J PEDIAT, 136(2), 2000, pp. 251-254
Multiproxy surface wetness records from replicate cores on an ombrotrophicmire: implications for Holocene palaeoclimate records
Authors: Charman, DJ Hendon, D Packman, S
Citation: Dj. Charman et al., Multiproxy surface wetness records from replicate cores on an ombrotrophicmire: implications for Holocene palaeoclimate records, J QUAT SCI, 14(5), 1999, pp. 451-463
Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin
Authors: Enns, GM Barkovich, AJ Rosenblatt, DS Fredrick, DR Weisiger, K Ohnstad, C Packman, S
Citation: Gm. Enns et al., Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin, J INH MET D, 22(5), 1999, pp. 599-607
Molecular correlations in phenylketonuria: Mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population
Authors: Enns, GM Martinez, DR Kuzmin, AI Koch, R Wakeem, CK Woo, SLC Eisensmith, RC Packman, S
Citation: Gm. Enns et al., Molecular correlations in phenylketonuria: Mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population, PEDIAT RES, 46(5), 1999, pp. 594-602
Risultati: 1-8 |