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Results: 1-19 |
Results: 19
Smith-Lemli-Opitz syndrome: The first malformation syndrome associated with defective cholesterol synthesis (vol 71, pg 154, 2000)
Authors: Battaile, KP Steiner, RD
Citation: Kp. Battaile et Rd. Steiner, Smith-Lemli-Opitz syndrome: The first malformation syndrome associated with defective cholesterol synthesis (vol 71, pg 154, 2000), MOL GEN MET, 73(1), 2001, pp. 114-115
Carrier frequency of the common mutation IVS8-IG > C in DHCR7 and estimateof the expected incidence of Smith-Lemli-Opitz syndrome
Authors: Battaile, KP Battaile, BC Merkens, LS Maslen, CL Steiner, RD
Citation: Kp. Battaile et al., Carrier frequency of the common mutation IVS8-IG > C in DHCR7 and estimateof the expected incidence of Smith-Lemli-Opitz syndrome, MOL GEN MET, 72(1), 2001, pp. 67-71
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome
Authors: Wassif, CA Zhu, PJ Kratz, L Krakowiak, PA Battaile, KP Weight, FF Grinberg, A Steiner, RD Nwokoro, NA Kelley, RI Stewart, RR Porter, FD
Citation: Ca. Wassif et al., Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome, HUM MOL GEN, 10(6), 2001, pp. 555-564
Deficits in memory strategy use related to prefrontal dysfunction during early development: Evidence from children with phenylketonuria
Authors: White, DA Nortz, MJ Mandernach, T Huntington, K Steiner, RD
Citation: Da. White et al., Deficits in memory strategy use related to prefrontal dysfunction during early development: Evidence from children with phenylketonuria, NEUROPSYCHL, 15(2), 2001, pp. 221-229
Ophthalmic drops causing coma in an infant
Authors: Berlin, RJ Lee, UT Samples, JR Rich, LF Tang-Liu, DDS Sing, KA Steiner, RD
Citation: Rj. Berlin et al., Ophthalmic drops causing coma in an infant, J PEDIAT, 138(3), 2001, pp. 441-443
Laboratory evaluation of urea cycle disorders
Authors: Steiner, RD Cederbaum, SD
Citation: Rd. Steiner et Sd. Cederbaum, Laboratory evaluation of urea cycle disorders, J PEDIAT, 138(1), 2001, pp. S21-S29
Long-term management of patients with urea cycle disorders
Authors: Berry, GT Steiner, RD
Citation: Gt. Berry et Rd. Steiner, Long-term management of patients with urea cycle disorders, J PEDIAT, 138(1), 2001, pp. S56-S60
Interhemispheric interaction during childhood: II. Children with early-treated phenylketonuria
Authors: Banich, MT Passarotti, AM White, DA Nortz, MJ Steiner, RD
Citation: Mt. Banich et al., Interhemispheric interaction during childhood: II. Children with early-treated phenylketonuria, DEV NEUROPS, 18(1), 2000, pp. 53-71
Smith-Lemli-Opitz syndrome: The first malformation syndrome associated with defective cholesterol synthesis
Authors: Battaile, KP Steiner, RD
Citation: Kp. Battaile et Rd. Steiner, Smith-Lemli-Opitz syndrome: The first malformation syndrome associated with defective cholesterol synthesis, MOL GEN MET, 71(1-2), 2000, pp. 154-162
Fructose-1,6-diphosphatase deficiency and glyceroluria: One possible etiology for GIS
Authors: Beatty, ME Zhang, YH McCabe, ERB Steiner, RD
Citation: Me. Beatty et al., Fructose-1,6-diphosphatase deficiency and glyceroluria: One possible etiology for GIS, MOL GEN MET, 69(4), 2000, pp. 338-340
Smith-Lemli-Opitz syndrome: A multiple malformation/mental retardation syndrome caused by defective cholesterol synthesis
Authors: Ginat, S Maslen, CL Conner, WE Porter, FD Steiner, RD
Citation: S. Ginat et al., Smith-Lemli-Opitz syndrome: A multiple malformation/mental retardation syndrome caused by defective cholesterol synthesis, ENDOCRINOLO, 10(5), 2000, pp. 300-313
Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi
Authors: Linck, LM Hayflick, SJ Lin, DS Battaile, KP Ginat, S Burlingame, T Gibson, KM Honda, M Honda, A Salen, G Tint, GS Connor, WE Steiner, RD
Citation: Lm. Linck et al., Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi, PRENAT DIAG, 20(3), 2000, pp. 238-240
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: Polymerase chain reaction-based assays to simplify genotyping
Authors: Krakowiak, PA Nwokoro, NA Wassif, CA Battaile, KP Nowaczyk, MJM Connor, WE Maslen, C Steiner, RD Porter, FD
Citation: Pa. Krakowiak et al., Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: Polymerase chain reaction-based assays to simplify genotyping, AM J MED G, 94(3), 2000, pp. 214-227
Cholesterol supplementation with egg yolk increases plasma cholesterol anddecreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome
Authors: Linck, LM Lin, DS Flavell, D Connor, WE Steiner, RD
Citation: Lm. Linck et al., Cholesterol supplementation with egg yolk increases plasma cholesterol anddecreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome, AM J MED G, 93(5), 2000, pp. 360-365
Increased urine heparan and chondroitin sulphate excretion in patients with osteopetrosis
Authors: Steiner, RD Whyte, MP Chang, E Hanks, J Mattes, C Senephansiri, H Gibson, KM
Citation: Rd. Steiner et al., Increased urine heparan and chondroitin sulphate excretion in patients with osteopetrosis, J INH MET D, 23(1), 2000, pp. 88-90
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: A new inborn error ofL-isoleucine metabolism
Authors: Gibson, KM Burlingame, TG Hogema, B Jakobs, C Schutgens, RBH Millington, D Roe, CR Roe, DS Sweetman, L Steiner, RD Linck, L Pohowalla, P Sacks, M Kiss, D Rinaldo, P Vockley, J
Citation: Km. Gibson et al., 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: A new inborn error ofL-isoleucine metabolism, PEDIAT RES, 47(6), 2000, pp. 830-833
Risk factors for premature ovarian failure in females with galactosemia
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
Sterol balance in the Smith-Lemli-Opitz syndrome: reduction in whole body cholesterol synthesis and normal bile acid production
Authors: Steiner, RD Linck, LM Flavell, DP Lin, DS Connor, WE
Citation: Rd. Steiner et al., Sterol balance in the Smith-Lemli-Opitz syndrome: reduction in whole body cholesterol synthesis and normal bile acid production, J LIPID RES, 41(9), 2000, pp. 1437-1447
Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome
Authors: Atchaneeyasakul, LO Linck, LM Connor, WE Weleber, RG Steiner, RD
Citation: Lo. Atchaneeyasakul et al., Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome, AM J MED G, 80(5), 1998, pp. 501-505
Risultati: 1-19 |