A patient with Smith–Lemli–Opitz syndrome: novel mutation of theDHCR7gene and effects of therapy with simvastatin and cholesterol supplement

• 作者Gabriella P. Szabó; Anna V. Oláh; Libor Kozak; Erzsébet Balogh; Andrea Nagy; Ivona Blahakova; Éva Oláh
• 卷第169卷
• 期第1期
• 印刷ISSN0340-6199
• 电子ISSN1432-1076
• 文件大小70.26KB
• 发表时间2010-01
• DOI10.1007/s00431-009-0987-z
• 页码121-123