Targeted Screening for Gaucher Disease in High Suspicion Patients and Clinical Profile of Screen Positives in a Large Pediatric Multispecialty Hospital

Objectives: The proposed screening study was aimed at determining the prevalence of Gaucher disease in a selected high-risk population of patients and describing the clinical profile of diagnosed patients. Methodology: It was a prospective observational study from January 2020 to September 2022 (two...

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Detalles Bibliográficos
Autores principales: Magar, Suvarna, Engade, Madhuri, Idhate, Tushar, Khambayate, Sachin, Nilofer, Shaikh, Kalia, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9630059/
https://www.ncbi.nlm.nih.gov/pubmed/36348851
http://dx.doi.org/10.7759/cureus.29868

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9630059/
https://www.ncbi.nlm.nih.gov/pubmed/36348851
http://dx.doi.org/10.7759/cureus.29868

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