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Results: 1-7 |
Results: 7
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: Increased accuracy employing DNA, enzyme, and metabolite analyses
Authors: Hogema, BM Akaboshi, S Taylor, M Salomons, GS Jakobs, C Schutgens, RB Wilcken, B Worthington, S Maropoulos, G Grompe, M Gibson, KM
Citation: Bm. Hogema et al., Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: Increased accuracy employing DNA, enzyme, and metabolite analyses, MOL GEN MET, 72(3), 2001, pp. 218-222
Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?
Authors: Cecil, KM Salomons, GS Ball, WS Wong, B Chuck, G Verhoeven, NM Jakobs, C DeGrauw, TJ
Citation: Km. Cecil et al., Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?, ANN NEUROL, 49(3), 2001, pp. 401-404
X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome
Authors: Salomons, GS van Dooren, SJM Verhoeven, NM Cecil, KM Ball, WS Degrauw, TJ Jakobs, C
Citation: Gs. Salomons et al., X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome, AM J HU GEN, 68(6), 2001, pp. 1497-1500
Transaldolase deficiency: Liver cirrhosis associated with a new inborn error in the pentose phosphate pathway
Authors: Verhoeven, NM Huck, JHJ Roos, B Struys, EA Salomons, GS Douwes, AC van der Knaap, MS Jakobs, C
Citation: Nm. Verhoeven et al., Transaldolase deficiency: Liver cirrhosis associated with a new inborn error in the pentose phosphate pathway, AM J HU GEN, 68(5), 2001, pp. 1086-1092
Enteral inulin doles not affect epithelial gene expression and cell turnover within the ileoanal pouch - Randomized, placebo-controlled, crossover study
Authors: Meijer, HP Welters, CFM Heineman, E Salomons, GS Buller, HA Dekker, J Einerhand, AWC
Citation: Hp. Meijer et al., Enteral inulin doles not affect epithelial gene expression and cell turnover within the ileoanal pouch - Randomized, placebo-controlled, crossover study, DIS COL REC, 43(10), 2000, pp. 1427-1434
Signalling steps in apoptosis by ether lipids
Authors: Smets, LA Van Rooij, H Salomons, GS
Citation: La. Smets et al., Signalling steps in apoptosis by ether lipids, APOPTOSIS, 4(6), 1999, pp. 419-427
Bcl-2 family members in childhood acute lymphoblastic leukemia: relationships with features at presentation, in vitro and in vivo drug response and long-term clinical outcome
Authors: Salomons, GS Smets, LA Verwijs-Janssen, M Hart, AAM Haarman, EG Kaspers, GJL Van Wering, ER Van Der Does-Van Den Berg, A Kamps, WA
Citation: Gs. Salomons et al., Bcl-2 family members in childhood acute lymphoblastic leukemia: relationships with features at presentation, in vitro and in vivo drug response and long-term clinical outcome, LEUKEMIA, 13(10), 1999, pp. 1574-1580
Risultati: 1-7 |