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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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Publicado no: | Mol Genet Metab Rep |
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Main Authors: | , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Elsevier
2016
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5137178/ https://ncbi.nlm.nih.gov/pubmed/27942463 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.11.004 |
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