Citation Information :
Varma S, Kakkar N, Saxena A, Lal S. A 12-year-old Girl with Massive Hepatosplenomegaly. J Postgrad Med Edu Res 2016; 50 (2):112-121.
The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med 2006 Jun;160(6):603-608.
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J Inherit Metab Dis 2007 Oct;30(5):654-663.
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients. Mol Genet Metab 2012 Nov;107(3):526-533.
Primary familial xanthomatosis with involvement and calcification of the adrenals. Report of two more cases in siblings of a previously described infant. Pediatrics 1961 Nov;28:742-757.
Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol 2013 Jun;58(6):1230-1243.
Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens. Histopathology 2012 Jun;60(7):1107-1113.
A non-classical presentation of Tangier disease with three ABCA1 mutations. JIMD Rep 2012;4:109-111.
Renal involvement in Neimann-Pick disease. NDT Plus 2009 Dec;2(6):448-451.
The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics 2004 Dec;114(6):e672-e677.
Lipid abnormalities in children with types A and B Niemann Pick disease. J Pediatr 2004 Jul;145(1):77-81.
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). Am J Surg Pathol 2012 Aug;36(8):1234-1246.
Cathepsin B overexpression due to acid sphingomyelinase ablation promotes liver fibrosis in Niemann-Pick disease. J Biol Chem 2012 Jan;287(2):1178-1188.
Increased sphingomyelin content impairs HDL biogenesis and maturation in human Niemann-Pick disease type B. J Lipid Res 2006 Mar;47(3):622-632.
