Authors:
Albers, S
Levy, HL
Irons, M
Strauss, AW
Marsden, D
Citation: S. Albers et al., Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency, J INH MET D, 24(3), 2001, pp. 417-418
Authors:
Albers, S
Marsden, D
Quackenbush, E
Stark, AR
Levy, HL
Irons, M
Citation: S. Albers et al., Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry, PEDIATRICS, 107(6), 2001, pp. NIL_97-NIL_100
Authors:
Williard, DE
Nwankwo, JO
Kaduce, TL
Harmon, SD
Irons, M
Moser, HW
Raymond, GV
Spector, AA
Citation: De. Williard et al., Identification of a fatty acid Delta(6)-desaturase deficiency in human skin fibroblasts, J LIPID RES, 42(4), 2001, pp. 501-508
Authors:
Yu, HW
Lee, MH
Starck, L
Elias, ER
Irons, M
Salen, G
Patel, SB
Tint, GS
Citation: Hw. Yu et al., Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome, HUM MOL GEN, 9(9), 2000, pp. 1385-1391
Authors:
Yu, HW
Lee, MH
Starck, L
Elias, ER
Irons, M
Salen, G
Patel, SB
Tint, GS
Citation: Hw. Yu et al., Spectrum of Delta 7-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome (vol 9, pg 1385, 2000), HUM MOL GEN, 9(12), 2000, pp. 1903-1903
Authors:
Bradley, LA
Palomaki, GE
Knight, GJ
Haddow, JE
Opitz, JM
Irons, M
Kelley, RI
Tint, GS
Citation: La. Bradley et al., Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses, AM J MED G, 82(4), 1999, pp. 355-358