Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Löwe Syndrome

• 主要な著者: Violeta Iotova (著者), Teodora Karamfilova (著者), Mariya Levkova (著者), Mariya Gaydarova (著者), Sonya Galcheva (著者), Dimitrichka Bliznakova (著者)
• フォーマット: 図書
• 出版事項: MDPI AG, 2023-07-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Objectives: Löwe syndrome (the oculocerebrorenal syndrome of Löwe, OCRL, OMIM #309000, ORPHA: 534) is a very rare multisystem X-linked disorder characterized by ocular, kidney and nervous system anomalies. Case presentation: We present the first Bulgarian genetically confirmed patient with OCRL. T...