Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies

Authors
Krajewska-Walasek, M Gradowska, W Ryzko, J Socha, P Chmielik, J Szaplyko, W Kasprzyk, J Gorska, B Szreter, M Wolski, J Rysiewski, H Malunowicz, EM Gregorek, H Michalkiewicz, J Pietraszek, E Szaplyko, J
Citation
M. Krajewska-walasek et al., Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies, CLIN DYSMOR, 8(1), 1999, pp. 29-40
Citations number
39
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
CLINICAL DYSMORPHOLOGY
ISSN journal
09628827 → ACNP
Volume
8
Issue
1
Year of publication
1999
Pages
29 - 40
Database
ISI
SICI code
0962-8827(199901)8:1<29:FDOTCS>2.0.ZU;2-E
Abstract
We present here extensive clinical and biochemical data on thirteen SLOS (t ype I) patients with proven defect in cholesterol biosynthesis for further delineation of the classical SLOS phenotype at different patient ages. Clin Dysmorphol 8: 29-40 (C) 1999 Lippincott Williams & Wilkins.