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Abstract

Journal of Neurosciences in Rural Practice. 2023 Jan-Mar; 14(1): 189-90.
doi  10.25259/JNRP-2022-6-43
PMID 36891108

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

Krishna, Deepthi Gunasekaran, Pradeep Kumar Kumari, Janki Laxmi, Veena Saini, Lokesh Singh, Kuldeep

Abstract


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Association for Helping Neurosurgical Sick People. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-Non Derivative-Non Commercial License, permitting copying and reproduction so long as the original work is given appropriate credit.

Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License, which permits unrestricted reproduction and distribution, for non-commercial purposes only; and use and reproduction, but not distribution, of adapted material for non-commercial purposes only, provided the original work is properly cited.

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