-
1
-
-
0000139419
-
A newly recognised syndrome of multiple congenital anomalies
-
Smith D.W., Lemli L., Opitz J.M. A newly recognised syndrome of multiple congenital anomalies. J Pediatr. 64:1964;210-217.
-
(1964)
J Pediatr
, vol.64
, pp. 210-217
-
-
Smith, D.W.1
Lemli, L.2
Opitz, J.M.3
-
2
-
-
0028295496
-
Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient
-
Irons M., Elias E.R., Tint G.S., et al. Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet. 50:1994;358-363.
-
(1994)
Am J Med Genet
, vol.50
, pp. 358-363
-
-
Irons, M.1
Elias, E.R.2
Tint, G.S.3
-
3
-
-
0028295498
-
RSH/SLO (Smith-Lemli-Opitz) syndrome: Designing a high cholesterol diet for the SLO syndrome
-
Acosta P.B. RSH/SLO (Smith-Lemli-Opitz) syndrome: designing a high cholesterol diet for the SLO syndrome. Am J Med Genet. 50:1994;358-363.
-
(1994)
Am J Med Genet
, vol.50
, pp. 358-363
-
-
Acosta, P.B.1
-
4
-
-
0000727177
-
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
-
Tint G.S., Irons M., Elias E.R., Batta A.K., Frieden R., Chen T.S., et al. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med. 330:1994;107-113.
-
(1994)
N Engl J Med
, vol.330
, pp. 107-113
-
-
Tint, G.S.1
Irons, M.2
Elias, E.R.3
Batta, A.K.4
Frieden, R.5
Chen, T.S.6
-
5
-
-
0029022844
-
Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
-
Kelly R.I. Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. Clin Chim Acta. 236:1995;45-58.
-
(1995)
Clin Chim Acta
, vol.236
, pp. 45-58
-
-
Kelly, R.I.1
-
6
-
-
0031057690
-
Screening for abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome: Rapid determination of plasma 7-dehydrocholesterol by ultraviolet spectrometry
-
Honda A., Batta A.K., Salen G., Tint G.S., Chen T.S., Shefer S. Screening for abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome: rapid determination of plasma 7-dehydrocholesterol by ultraviolet spectrometry. Am J Med Genet. 68:1997;228-229.
-
(1997)
Am J Med Genet
, vol.68
, pp. 228-229
-
-
Honda, A.1
Batta, A.K.2
Salen, G.3
Tint, G.S.4
Chen, T.S.5
Shefer, S.6
-
7
-
-
0030469865
-
Cholesta-5,7,9(11)-trien-3β-ol found in plasma of patients with Smith-Lemli-Opitz syndrome indicates formation of sterol hydroperoxide
-
De Fabiani E., Caruso D., Cavaleri M., Galli Kiengle M., Galli G. Cholesta-5,7,9(11)-trien-3β-ol found in plasma of patients with Smith-Lemli-Opitz syndrome indicates formation of sterol hydroperoxide. J Lipid Res. 37:1996;2280-2287.
-
(1996)
J Lipid Res
, vol.37
, pp. 2280-2287
-
-
De Fabiani, E.1
Caruso, D.2
Cavaleri, M.3
Galli Kiengle, M.4
Galli, G.5
-
8
-
-
0029891851
-
7-reductase inhibitors: Comparison to levels in humans with Smith-Lemli-Opitz syndrome
-
7-reductase inhibitors: comparison to levels in humans with Smith-Lemli-Opitz syndrome. J Lipid Res. 37:1996;1325-1333.
-
(1996)
J Lipid Res
, vol.37
, pp. 1325-1333
-
-
Wolf, C.1
Chevy, F.2
Pham, J.3
-
9
-
-
0016737931
-
Plasma tocopherol in infants and children
-
McWhirter W.R. Plasma tocopherol in infants and children. Acta Pediatr Scand. 64:1975;446-448.
-
(1975)
Acta Pediatr Scand
, vol.64
, pp. 446-448
-
-
McWhirter, W.R.1
-
10
-
-
0022653213
-
Evaluation of a pediatric multiple vitamin preparation for total parenteral nutrition. II. Blood levels of vitamins A, D, and E
-
Greene H.L., Moore M.E., Phillips B., et al. Evaluation of a pediatric multiple vitamin preparation for total parenteral nutrition. II. Blood levels of vitamins A, D, and E. Pediatrics. 77:1986;539-547.
-
(1986)
Pediatrics
, vol.77
, pp. 539-547
-
-
Greene, H.L.1
Moore, M.E.2
Phillips, B.3
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