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

• Main Authors: Violeta Iotova (Author), Teodora Karamfilova (Author), Mariya Levkova (Author), Mariya Gaydarova (Author), Sonya Galcheva (Author), Dimitrichka Bliznakova (Author)
• Format: Book
• Published: MDPI AG, 2023-07-01T00:00:00Z.
• Subjects: article
• Online Access: 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...