-
1
-
-
0018628689
-
Sea blue histiocytosis in a patient with chronic non-neuropathic Niemann–Pick disease
-
Dewhurst N, Besley GT, Finlayson ND, Parker AC (1979) Sea blue histiocytosis in a patient with chronic non-neuropathic Niemann–Pick disease. J Clin Pathol 32:1121–1127
-
(1979)
J Clin Pathol
, vol.32
, pp. 1121-1127
-
-
Dewhurst, N.1
Besley, G.T.2
Finlayson, N.D.3
Parker, A.C.4
-
2
-
-
84867897494
-
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients
-
Hollak CE, de Sonnaville ES, Cassiman D et al (2012) Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients. Mol Genet Metab 107:526–533
-
(2012)
Mol Genet Metab
, vol.107
, pp. 526-533
-
-
Hollak, C.E.1
de Sonnaville, E.S.2
Cassiman, D.3
-
4
-
-
0025778878
-
Fatal liver failure in two children with Niemann–Pick disease type B
-
Labrune P, Bedossa P, Huguet P et al (1991) Fatal liver failure in two children with Niemann–Pick disease type B. J Pediatr Gastroenterol Nutr 13:104–109
-
(1991)
J Pediatr Gastroenterol Nutr
, vol.13
, pp. 104-109
-
-
Labrune, P.1
Bedossa, P.2
Huguet, P.3
-
5
-
-
33644921804
-
Natural history of type A Niemann–Pick disease: Possible endpoints for therapeutic trials
-
McGovern MM, Aron A, Brodie SE et al (2006) Natural history of type A Niemann–Pick disease: possible endpoints for therapeutic trials. Neurology 66:228–232
-
(2006)
Neurology
, vol.66
, pp. 228-232
-
-
McGovern, M.M.1
Aron, A.2
Brodie, S.E.3
-
6
-
-
49849099179
-
A prospective, cross-sectional survey study of the natural history of Niemann–Pick disease type B
-
McGovern MM, Wasserstein MP, Giugliani R et al (2008) A prospective, cross-sectional survey study of the natural history of Niemann–Pick disease type B. Pediatrics 122:e341–e349
-
(2008)
Pediatrics
, vol.122
, pp. e341-e349
-
-
McGovern, M.M.1
Wasserstein, M.P.2
Giugliani, R.3
-
7
-
-
84880108489
-
Morbidity and mortality in type B Niemann–Pick disease
-
McGovern MM, Lippa N, Bagiella E et al (2013) Morbidity and mortality in type B Niemann–Pick disease. Genet Med 15:618–623
-
(2013)
Genet Med
, vol.15
, pp. 618-623
-
-
McGovern, M.M.1
Lippa, N.2
Bagiella, E.3
-
8
-
-
84855503594
-
Cathepsin B overexpression due to acid sphingomyelinase ablation promotes liver fibrosis in Niemann–Pick disease
-
Moles A, Tarrats N, Fernandez-Checa JC, Mari M (2012) Cathepsin B overexpression due to acid sphingomyelinase ablation promotes liver fibrosis in Niemann–Pick disease. J Biol Chem 287:1178–1188
-
(2012)
J Biol Chem
, vol.287
, pp. 1178-1188
-
-
Moles, A.1
Tarrats, N.2
Fernandez-Checa, J.C.3
Mari, M.4
-
9
-
-
21144457361
-
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study
-
Pavlu-Pereira H, Asfaw B, Poupctova H et al (2005) Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. J Inherit Metab Dis 28:203–227
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 203-227
-
-
Pavlu-Pereira, H.1
Asfaw, B.2
Poupctova, H.3
-
10
-
-
0032934036
-
Sphingosylphosphorylcho-line in Niemann–Pick disease brain: Accumulation in type A but not in type B
-
Rodriguez-Lafrasse C, Vanier MT (1999) Sphingosylphosphorylcho-line in Niemann–Pick disease brain: accumulation in type A but not in type B. Neurochem Res 24:199–205
-
(1999)
Neurochem Res
, vol.24
, pp. 199-205
-
-
Rodriguez-Lafrasse, C.1
Vanier, M.T.2
-
11
-
-
35248814255
-
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann–Pick disease
-
Schuchman EH (2007) The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann–Pick disease. J Inherit Metab Dis 30:654–663
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 654-663
-
-
Schuchman, E.H.1
-
12
-
-
0031044728
-
Heterogeneity of liver disorder in type B Niemann–Pick disease
-
Takahashi T, Akiyama K, Tomihara M et al (1997) Heterogeneity of liver disorder in type B Niemann–Pick disease. Hum Pathol 28:385–388
-
(1997)
Hum Pathol
, vol.28
, pp. 385-388
-
-
Takahashi, T.1
Akiyama, K.2
Tomihara, M.3
-
13
-
-
0026057831
-
Cirrhosis and portal hypertension in a patient with adult Niemann–Pick disease
-
Tassoni JP Jr, Fawaz KA, Johnston DE (1991) Cirrhosis and portal hypertension in a patient with adult Niemann–Pick disease. Gastroenterology 100:567–569
-
(1991)
Gastroenterology
, vol.100
, pp. 567-569
-
-
Tassoni, J.P.1
Fawaz, K.A.2
Johnston, D.E.3
-
14
-
-
84863845235
-
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B)
-
Thurberg BL, Wasserstein MP, Schiano T et al (2012) Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). Am J Surg Pathol 36:1234–1246
-
(2012)
Am J Surg Pathol
, vol.36
, pp. 1234-1246
-
-
Thurberg, B.L.1
Wasserstein, M.P.2
Schiano, T.3
-
15
-
-
84876849121
-
Niemann–Pick diseases
-
Vanier MT (2013) Niemann–Pick diseases. Handb Clin Neurol 113:1717–1721
-
(2013)
Handb Clin Neurol
, vol.113
, pp. 1717-1721
-
-
Vanier, M.T.1
-
16
-
-
0018879888
-
Sphingomyelinase activities of various human tissues in control subjects and in Niemann–Pick disease – development and evaluation of a microprocedure
-
Vanier MT, Revol A, Fichet M (1980) Sphingomyelinase activities of various human tissues in control subjects and in Niemann–Pick disease – development and evaluation of a microprocedure. Clin Chim Acta 106:257–267
-
(1980)
Clin Chim Acta
, vol.106
, pp. 257-267
-
-
Vanier, M.T.1
Revol, A.2
Fichet, M.3
-
17
-
-
16644401487
-
The natural history of type B Niemann–Pick disease: Results from a 10-year longitudinal study
-
Wasserstein MP, Desnick RJ, Schuchman EH et al (2004) The natural history of type B Niemann–Pick disease: results from a 10-year longitudinal study. Pediatrics 114:e672–e677
-
(2004)
Pediatrics
, vol.114
, pp. e672-e677
-
-
Wasserstein, M.P.1
Desnick, R.J.2
Schuchman, E.H.3
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