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Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene

BACKGROUND: Mucolipidosis II (ML II α/β) is an inherited lysosomal storage disorder caused by deficiency of GlcNAc-phosphotransferase enzyme and results in mis-targeting of multiple lysosomal enzymes. Affected patients are characterized by skeletal deformities and developmental delay. Homozygous or...

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Detalles Bibliográficos
Autores principales:	Essawi, Mona L., Fateen, Ekram M., Atia, Hanan A., Eissa, Noura R., Aboul-Ezz, Eman H., Ibrahim, Mona M., Hassan, Heba A., Temtamy, Samia A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8333150/ https://www.ncbi.nlm.nih.gov/pubmed/34342781 http://dx.doi.org/10.1186/s43141-021-00204-4

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