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

• Main Authors: Zhe-wen Zhou (Author), Shou-hao Wang (Author), Cheng-an Xu (Author), Wen-hao Wu (Author), Tian-chen Hui (Author), Qiao-qiao Yin (Author), Wei Zheng (Author), Hong-ying Pan (Author)
• Format: Book
• Published: BMC, 2022-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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...