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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...
Autores principales: | Iotova, Violeta, Karamfilova, Teodora, Levkova, Mariya, Gaydarova, Mariya, Galcheva, Sonya, Bliznakova, Dimitrichka |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
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 |
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