AAAAAA
Results:
1-21
|
Results: 21
Authors:
Lai, K
Elsas, LJ
Citation: K. Lai et Lj. Elsas, Structure-function analyses of a common mutation in blacks with transferase-deficiency galactosemia, MOL GEN MET, 74(1-2), 2001, pp. 264-272
Authors:
Elsas, LJ
Lai, K
Saunders, CJ
Langley, SD
Citation: Lj. Elsas et al., Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia, MOL GEN MET, 72(4), 2001, pp. 297-305
Authors:
Elsas, LJ
Citation: Lj. Elsas, Prenatal diagnosis of galactose-1-phosphate uridyltransferase (GALT)-deficient galactosemia, PRENAT DIAG, 21(4), 2001, pp. 302-303
Authors:
Longo, N
Singh, R
Elsas, LJ
Citation: N. Longo et al., Decreased half-life of insulin-like growth factor I in Rabson-Mendenhall syndrome, J INH MET D, 24(5), 2001, pp. 546-550
Authors:
Yager, C
Gibson, J
States, B
Elsas, LJ
Segal, S
Citation: C. Yager et al., Oxidation of galactose by galactose-1-phosphate uridyltransferase-deficient lymphoblasts, J INH MET D, 24(4), 2001, pp. 465-476
Authors:
Elsas, LJ
Ljungqvist, A
Ferguson-Smith, MA
Simpson, JL
Genel, M
Carlson, AS
Ferris, E
de la Chapelle, A
Ehrhardt, AA
Citation: Lj. Elsas et al., Gender verification of female athletes, GENET MED, 2(4), 2000, pp. 249-254
Authors:
Robertson, A
Singh, RH
Guerrero, NV
Hundley, M
Elsas, LJ
Citation: A. Robertson et al., Outcomes analysis of verbal dyspraxia in classic galactosemia, GENET MED, 2(2), 2000, pp. 142-148
Authors:
Simpson, JL
Ljunqvist, A
Ferguson-Smith, MA
de la Chapelle, A
Elsas, LJ
Ehrhardt, AA
Genel, M
Ferris, EA
Carlson, A
Citation: Jl. Simpson et al., Gender vs sex - Reply, J AM MED A, 284(23), 2000, pp. 2998-2998
Authors:
Simpson, JL
Ljungqvist, A
Ferguson-Smifh, MA
de la Chapelle, A
Elsas, LJ
Ehrhardt, AA
Genel, M
Ferris, EA
Carlson, A
Citation: Jl. Simpson et al., Gender verification in the Olympics, J AM MED A, 284(12), 2000, pp. 1568-1569
Authors:
Elsas, LJ
Trepanier, A
Citation: Lj. Elsas et A. Trepanier, Cancer genetics in primary care - When is genetic screening an option and when is it the standard of care?, POSTGR MED, 107(4), 2000, pp. 191
Authors:
Berry, GT
Singh, RH
Mazur, AT
Guerrero, N
Kennedy, MJ
Chen, J
Reynolds, R
Palmieri, MJ
Klein, PD
Segal, S
Elsas, LJ
Citation: Gt. Berry et al., Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes, PEDIAT RES, 48(3), 2000, pp. 323-328
Authors:
Guerrero, NV
Singh, RH
Manatunga, A
Berry, GT
Steiner, RD
Elsas, LJ
Citation: Nv. Guerrero et al., Risk factors for premature ovarian failure in females with galactosemia, J PEDIAT, 137(6), 2000, pp. 833-841
Authors:
Pass, KA
Lane, PA
Fernhoff, PM
Hinton, CF
Panny, SR
Parks, JS
Pelias, MZ
Rhead, WJ
Ross, SI
Wethers, DL
Elsas, LJ
Citation: Ka. Pass et al., US Newborn Screening System Guidelines II: Follow-up of children, diagnosis, management, and evaluation - Statement of the Council of Regional Networks for Genetic Services (CORN), J PEDIAT, 137(4), 2000, pp. S1-S46
Authors:
Lai, K
Elsas, LJ
Citation: K. Lai et Lj. Elsas, Overexpression of human UDP-glucose pyrophosphorylase rescues galactose-1-phosphate uridyltransferase-deficient yeast, BIOC BIOP R, 271(2), 2000, pp. 392-400
Authors:
Singh, RH
Kable, JA
Guerrero, NV
Sullivan, KM
Elsas, LJ
Citation: Rh. Singh et al., Impact of a camp experience on phenylalanine levels, knowledge, attitudes,and health beliefs relevant to nutrition management of phenylketonuria in adolescent girls, J AM DIET A, 100(7), 2000, pp. 797-803
Authors:
Tyfield, L
Reichardt, J
Fridovich-Keil, J
Croke, DT
Elsas, LJ
Strobl, W
Kozak, L
Coskun, T
Novelli, G
Okano, Y
Zekanowski, C
Shin, Y
Boleda, MD
Citation: L. Tyfield et al., Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene, HUM MUTAT, 13(6), 1999, pp. 417-430
Authors:
Guasch, A
Zayas, CF
Eckman, JR
Muralidharan, K
Zhang, W
Elsas, LJ
Citation: A. Guasch et al., Evidence that microdeletions in the alpha globin gene protect against the development of sickle cell glomerulopathy in humans, J AM S NEPH, 10(5), 1999, pp. 1014-1019
Authors:
Olney, PN
Kean, LS
Graham, D
Elsas, LJ
May, KM
Citation: Pn. Olney et al., Campomelic syndrome and deletion of SOX9, AM J MED G, 84(1), 1999, pp. 20-24
Authors:
Lai, K
Willis, AC
Elsas, LJ
Citation: K. Lai et al., The biochemical role of glutamine 188 in human galactose-1-phosphate uridyltransferase, J BIOL CHEM, 274(10), 1999, pp. 6559-6566
Authors:
Elsas, LJ
Lai, K
Citation: Lj. Elsas et K. Lai, The molecular biology of galactosemia, GENET MED, 1(1), 1998, pp. 40-48
Authors:
Friedman, JM
Blitzer, M
Elsas, LJ
Francke, U
Willard, HF
Citation: Jm. Friedman et al., Clinical objectives in medical genetics for undergraduate medical students, GENET MED, 1(1), 1998, pp. 54-55
Risultati:
1-21
|