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A rare case of intermediate phenotype Niemann-Pick disease with a rare pathogenic variant of 1624C>T in SMPD1 gene
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Scientific Scholar
2023
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| Materias: | |
| 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 |
| _version_ | 1784891965705289728 |
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| author | Krishna, Deepthi Gunasekaran, Pradeep Kumar Kumari, Janki Laxmi, Veena Saini, Lokesh Singh, Kuldeep |
| author_facet | Krishna, Deepthi Gunasekaran, Pradeep Kumar Kumari, Janki Laxmi, Veena Saini, Lokesh Singh, Kuldeep |
| author_sort | Krishna, Deepthi |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-9944668 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2023 |
| publisher | Scientific Scholar |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-99446682023-03-07 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 J Neurosci Rural Pract Letter to Editor Scientific Scholar 2023-01-27 2023 /pmc/articles/PMC9944668/ /pubmed/36891108 http://dx.doi.org/10.25259/JNRP-2022-6-43 Text en © 2023 Published by Scientific Scholar on behalf of Journal of Neurosciences in Rural Practice https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms. |
| spellingShingle | Letter to Editor Krishna, Deepthi Gunasekaran, Pradeep Kumar Kumari, Janki Laxmi, Veena Saini, Lokesh Singh, Kuldeep A rare case of intermediate phenotype Niemann-Pick disease with a rare pathogenic variant of 1624C>T in SMPD1 gene |
| title | A rare case of intermediate phenotype Niemann-Pick disease with a rare pathogenic variant of 1624C>T in SMPD1 gene |
| title_full | A rare case of intermediate phenotype Niemann-Pick disease with a rare pathogenic variant of 1624C>T in SMPD1 gene |
| title_fullStr | A rare case of intermediate phenotype Niemann-Pick disease with a rare pathogenic variant of 1624C>T in SMPD1 gene |
| title_full_unstemmed | A rare case of intermediate phenotype Niemann-Pick disease with a rare pathogenic variant of 1624C>T in SMPD1 gene |
| title_short | A rare case of intermediate phenotype Niemann-Pick disease with a rare pathogenic variant of 1624C>T in SMPD1 gene |
| title_sort | rare case of intermediate phenotype niemann-pick disease with a rare pathogenic variant of 1624c>t in smpd1 gene |
| topic | Letter to Editor |
| url | 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 |
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