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 |
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| container_title | Clinical dysmorphology |
| container_volume | 8 |
| creator | 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 |
| description | 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. |
| doi_str_mv | 10.1097/00019605-199901000-00007 |
| format | Article |
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| fulltext | fulltext |
| identifier | ISSN: 0962-8827 |
| ispartof | Clinical dysmorphology, 1999-01, Vol.8 (1), p.29-40 |
| issn | 0962-8827 |
| language | eng |
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| source | MEDLINE; Journals@Ovid Complete |
| subjects | 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 |
| title | Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies |
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