A rare case of intermediate phenotype Niemann-Pick disease with a rare pathogenic variant of 1624C>T in SMPD1 gene

Detalles Bibliográficos
Autores principales: Krishna, Deepthi, Gunasekaran, Pradeep Kumar, Kumari, Janki, Laxmi, Veena, Saini, Lokesh, Singh, Kuldeep
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Scientific Scholar 2023
Materias:
Letter to Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9944668/
https://www.ncbi.nlm.nih.gov/pubmed/36891108
http://dx.doi.org/10.25259/JNRP-2022-6-43
Descripción
Sumario:

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