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Results: 1-8 |
Results: 8
Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry
Authors: Westphal, V Enns, GM McCracken, MF Freeze, HH
Citation: V. Westphal et al., Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry, MOL GEN MET, 73(1), 2001, pp. 71-76
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
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
Apparent cyclophosphamide (cytoxan) embryopathy: A distinct phenotype?
Authors: Enns, GM Roeder, E Chan, RT Catts, ZAK Cox, VA Golabi, M
Citation: Gm. Enns et al., Apparent cyclophosphamide (cytoxan) embryopathy: A distinct phenotype?, AM J MED G, 86(3), 1999, pp. 237-241
Gastrointestinal tract anomalies in velocardiofacial syndrome
Authors: Enns, GM Cox, VA Golabi, M Immken, L Fisher, J Curry, C
Citation: Gm. Enns et al., Gastrointestinal tract anomalies in velocardiofacial syndrome, AM J MED G, 84(4), 1999, pp. 382-383
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
Severe congenital anomalies requiring transplantation in children with Kabuki syndrome
Authors: Ewart-Toland, A Enns, GM Cox, VA Mohan, GC Rosenthal, P Golabi, M
Citation: A. Ewart-toland et al., Severe congenital anomalies requiring transplantation in children with Kabuki syndrome, AM J MED G, 80(4), 1998, pp. 362-367
Risultati: 1-8 |