Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings

BACKGROUND: Lysosomal storage diseases (LSD) often manifest with cherry red macular spots. Diagnosis is based on clinical features and specific biochemical and enzymatic patterns. In uncertain cases, genetic testing with next generation sequencing can establish a diagnosis, especially in milder or a...

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Detalles Bibliográficos
Autores principales: Mütze, Ulrike, Bürger, Friederike, Hoffmann, Jessica, Tegetmeyer, Helmut, Heichel, Jens, Nickel, Petra, Lemke, Johannes R, Syrbe, Steffen, Beblo, Skadi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5137178/
https://www.ncbi.nlm.nih.gov/pubmed/27942463
http://dx.doi.org/10.1016/j.ymgmr.2016.11.004

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