Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease

2006 ◽  
Vol 149 (4) ◽  
pp. 554-559 ◽  
Author(s):  
Melissa P. Wasserstein ◽  
Alan Aron ◽  
Scott E. Brodie ◽  
Calogera Simonaro ◽  
Robert J. Desnick ◽  
...  
Keyword(s):  
Acid Sphingomyelinase ◽  
Intermediate Phenotype ◽  
Sphingomyelinase Deficiency ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals Liver and Skin Histopathology in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B)

2012 ◽  
Vol 36 (8) ◽  
pp. 1234-1246 ◽  
Author(s):  
Beth L. Thurberg ◽  
Melissa P. Wasserstein ◽  
Thomas Schiano ◽  
Fanny O’Brien ◽  
Susan Richards ◽  
...  
Keyword(s):  
Disease Type ◽  
Acid Sphingomyelinase ◽  
Type B ◽  
Sphingomyelinase Deficiency ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Patryk Lipiński ◽  
Ladislav Kuchar ◽  
Ekaterina Y. Zakharova ◽  
Galina V. Baydakova ◽  
Agnieszka Ługowska ◽  
...  
Keyword(s):  
Disease Type ◽  
Acid Sphingomyelinase ◽  
Type B ◽  
Sphingomyelinase Deficiency ◽  
Niemann Pick Disease ◽  
Long Term Follow Up ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals Niemann–Pick Disease versus acid sphingomyelinase deficiency

2001 ◽  
Vol 8 (1) ◽  
pp. 100-102 ◽  
Author(s):  
J Lozano ◽  
A Morales ◽  
A Cremesti ◽  
Z Fuks ◽  
J L Tilly ◽  
...  
Keyword(s):  
Acid Sphingomyelinase ◽  
Sphingomyelinase Deficiency ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Pick Disease
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