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3. Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases. Cassiman D; Packman S; Bembi B; Turkia HB; Al-Sayed M; Schiff M; Imrie J; Mabe P; Takahashi T; Mengel KE; Giugliani R; Cox GF Mol Genet Metab; 2016 Jul; 118(3):206-213. PubMed ID: 27198631 [TBL] [Abstract][Full Text] [Related]
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9. Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. Ranganath P; Matta D; Bhavani GS; Wangnekar S; Jain JM; Verma IC; Kabra M; Puri RD; Danda S; Gupta N; Girisha KM; Sankar VH; Patil SJ; Ramadevi AR; Bhat M; Gowrishankar K; Mandal K; Aggarwal S; Tamhankar PM; Tilak P; Phadke SR; Dalal A Am J Med Genet A; 2016 Oct; 170(10):2719-30. PubMed ID: 27338287 [TBL] [Abstract][Full Text] [Related]
10. An Early-Onset Neuronopathic Form of Acid Sphingomyelinase Deficiency: A SMPD1 p.C133Y Mutation in the Saposin Domain of Acid Sphingomyelinase. Ota S; Noguchi A; Kondo D; Nakajima Y; Ito T; Arai H; Takahashi T Tohoku J Exp Med; 2020 Jan; 250(1):5-11. PubMed ID: 31941852 [TBL] [Abstract][Full Text] [Related]
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19. Niemann-Pick disease (variation in the sphingomyelinase deficient group). Neurovisceral phenotype (A) with an abnormally protracted clinical course and variable expression of neurological symptomatology in three siblings. Elleder M; Cihula J Eur J Pediatr; 1983 Sep; 140(4):323-8. PubMed ID: 6628453 [TBL] [Abstract][Full Text] [Related]
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