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

• Κύριοι συγγραφείς: Violeta Iotova (Συγγραφέας), Teodora Karamfilova (Συγγραφέας), Mariya Levkova (Συγγραφέας), Mariya Gaydarova (Συγγραφέας), Sonya Galcheva (Συγγραφέας), Dimitrichka Bliznakova (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: MDPI AG, 2023-07-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: 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...