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http://dx.doi.org/10.1111/bjh.18890 | DOI Listing |
Blood Res
February 2024
Department of Hematology, All India Institute of Medical Sciences, Ansari Nagar East, New Delhi, 110049, India.
Br J Haematol
October 2023
Department of Haematology, Royal North Shore Hospital, St Leonards, Australia.
Br J Haematol
September 2023
Department of Hematology, Mubarak Al Kabeer Hospital, Kuwait.
Niemann-Pick disease (NPD) A/B is a lysosomal storage disease (LSD), caused by an autosomal recessive disorder that causes variation in sphingomyelin phosphodiesterase-1 (SMPD1). Systemic signs are cholestatic jaundice in the neonatal period or hepatosplenomegaly in infancy. The clinical course experienced by our patient did not correspond to the classic phenotypes.
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