Deficiency of Lysosomic Acid Lipase: Clinical Recommendations for Child Health Care Delivery

• 主要な著者: A. A. Baranov (著者), L. S. Namazova-Baranova (著者), O. S. Gundobina (著者), S. V. Mikhailova (著者), E. U. Zakharova (著者), E. A. Vishnyova (著者), K. V. Savostianov (著者), M. U. Stepanyan (著者)
• フォーマット: 図書
• 出版事項: Union of pediatricians of Russia, 2016-08-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

The deficiency of lysosomic acid lipase is a rare hereditary enzymopathy. The focus of this article is the present condition of this issue. The authors demonstrate epidemiological data and etiopathogenetic features of two phenotypic forms of lysosomic acid lipase deficiency - Wolman disease and chol...