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

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

We present here extensive clinical and biochemical data on thirteen SLOS (type I) patients with proven defect in cholesterol biosynthesis for further delineation of the classical SLOS phenotype at different patient ages.

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Veröffentlicht in:Clinical dysmorphology 1999-01, Vol.8 (1), p.29-40
Hauptverfasser: Krajewska-Walasek, M, Gradowska, W, Ryzko, J, Socha, P, Chmielik, J, Szapłyko, W, Kasprzyk, J, Górska, B, Szreter, M, Wolski, J, Rysiewski, H, Małunowicz, E M, Gregorek, H, Michałkiewicz, J, Pietraszek, E, Szapłyko, J
Format: Artikel
Sprache:eng
Schlagworte:
Aging - metabolism
Aging - pathology
Anthropometry
Cholesterol - biosynthesis
Female
Humans
Male
Phenotype
Smith-Lemli-Opitz Syndrome - metabolism
Smith-Lemli-Opitz Syndrome - pathology
Smith-Lemli-Opitz Syndrome - physiopathology
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Zusammenfassung:We present here extensive clinical and biochemical data on thirteen SLOS (type I) patients with proven defect in cholesterol biosynthesis for further delineation of the classical SLOS phenotype at different patient ages.
ISSN:0962-8827
DOI:10.1097/00019605-199901000-00007