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

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. The...

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Detalles Bibliográficos
Autores principales: Iotova, Violeta, Karamfilova, Teodora, Levkova, Mariya, Gaydarova, Mariya, Galcheva, Sonya, Bliznakova, Dimitrichka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10378625/
https://www.ncbi.nlm.nih.gov/pubmed/37508663
http://dx.doi.org/10.3390/children10071166

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10378625/
https://www.ncbi.nlm.nih.gov/pubmed/37508663
http://dx.doi.org/10.3390/children10071166

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