Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases

With a growing number of proved therapies and clinical trials for many lysosomal storage disorders (LSDs), a lot of hope for many patients and families exists. However, there are sometimes cases with poor prognosis, fatal outcomes when our efforts must be directed towards a prompt and correct geneti...

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Detalles Bibliográficos
Autores principales: Jezela-Stanek, Aleksandra, Kleinotiene, Grazina, Chwialkowska, Karolina, Tylki-Szymańska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8585001/
https://www.ncbi.nlm.nih.gov/pubmed/34768410
http://dx.doi.org/10.3390/jcm10214890

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8585001/
https://www.ncbi.nlm.nih.gov/pubmed/34768410
http://dx.doi.org/10.3390/jcm10214890

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