Article
Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.
American journal of medical genetics. Part A - 15 Jan 2005
Rossi Massimiliano, Vajro Pietro, Iorio Raffaele, Battagliese Antonella, Brunetti-Pierri Nicola, Corso Gaetano, Di Rocco Maja, Ferrari Paola, Rivasi Francesco, Vecchione Raffaella, Andria Generoso, Parenti Giancarlo
Abstract excerpt
Inborn defects of cholesterol biosynthesis are a group of metabolic disorders presenting with mental retardation and multiple congenital anomalies (MCA/MR syndromes). Functional and structural liver involvement has been reported as a rare (2.5-6%) complication of the Smith-Lemli-Opitz syndrome (SLOS) and it has not been fully characterized. Here, we report on a long-term follow-up study of four patients with...
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