Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome

BACKGROUND: The chronic visceral subtype of acid sphingomyelinase deficiency, commonly known as Niemann Pick disease type B (NPDB), is a relatively rare autosomal recessive genetic disorder that is caused by mutations in the SMPD1 gene. NPDB with sea-blue histiocytes (SBH) clinically mimics Budd-Chi...

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Detalles Bibliográficos
Autores principales: Zhou, Zhe-wen, Wang, Shou-hao, Xu, Cheng-an, Wu, Wen-hao, Hui, Tian-chen, Yin, Qiao-qiao, Zheng, Wei, Pan, Hong-ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482227/
https://www.ncbi.nlm.nih.gov/pubmed/36114502
http://dx.doi.org/10.1186/s12920-022-01353-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482227/
https://www.ncbi.nlm.nih.gov/pubmed/36114502
http://dx.doi.org/10.1186/s12920-022-01353-2

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