-
1
-
-
0001745899
-
Niemann-Pick disease types A and B: Acid sphingomyelinase deficiencies
-
Scriver C.R., Beaudet A.L., Sly W.S., et al. (Eds), McGraw-Hill, New York, NY
-
Schuchman E.H., and Desnick R.J. Niemann-Pick disease types A and B: Acid sphingomyelinase deficiencies. In: Scriver C.R., Beaudet A.L., Sly W.S., et al. (Eds). The Metabolic and Molecular Bases of Inherited Disease (ed 8) (2001), McGraw-Hill, New York, NY 3589-3610
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease (ed 8)
, pp. 3589-3610
-
-
Schuchman, E.H.1
Desnick, R.J.2
-
2
-
-
0028415336
-
Glycogen storage disease associated with Niemann-Pick disease: Histochemical, enzymatic, and lipid analyses
-
Narita T., Nakazawa H., Hizawa Y., et al. Glycogen storage disease associated with Niemann-Pick disease: Histochemical, enzymatic, and lipid analyses. Mod Pathol 7 (1994) 416-421
-
(1994)
Mod Pathol
, vol.7
, pp. 416-421
-
-
Narita, T.1
Nakazawa, H.2
Hizawa, Y.3
-
3
-
-
0025613323
-
Hyperlipidemia as a complication of Niemann-Pick type B disease
-
Filling-Katz M., Fink J.K., Oliver K.L., et al. Hyperlipidemia as a complication of Niemann-Pick type B disease. Clin Pediatr (Phila) 29 (1990) 670-673
-
(1990)
Clin Pediatr (Phila)
, vol.29
, pp. 670-673
-
-
Filling-Katz, M.1
Fink, J.K.2
Oliver, K.L.3
-
5
-
-
0942266394
-
Niemann-Pick disease: Sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant
-
Victor S., Coulter J.B., Besley G.T., et al. Niemann-Pick disease: Sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant. J Inherit Metab Dis 26 (2003) 775-785
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 775-785
-
-
Victor, S.1
Coulter, J.B.2
Besley, G.T.3
-
7
-
-
0036143924
-
Successful treatment of endogenous lipoid pneumonia due to Niemann-Pick type B disease with whole-lung lavage
-
Nicholson A.G., Wells A.U., Hooper J., et al. Successful treatment of endogenous lipoid pneumonia due to Niemann-Pick type B disease with whole-lung lavage. Am J Respir Crit Care Med 165 (2002) 128-131
-
(2002)
Am J Respir Crit Care Med
, vol.165
, pp. 128-131
-
-
Nicholson, A.G.1
Wells, A.U.2
Hooper, J.3
-
8
-
-
0642334441
-
Case report: Pulmonary involvement in an adult male affected by type B Niemann-Pick disease
-
Gonzalez-Reimers E., Sanchez-Perez M.J., Bonilla-Arjona A., et al. Case report: Pulmonary involvement in an adult male affected by type B Niemann-Pick disease. Br J Radiol 76 (2003) 838-840
-
(2003)
Br J Radiol
, vol.76
, pp. 838-840
-
-
Gonzalez-Reimers, E.1
Sanchez-Perez, M.J.2
Bonilla-Arjona, A.3
-
9
-
-
0346095336
-
Niemann-Pick disease: High-resolution CT findings in two siblings
-
Rodrigues R., Marchiori E., and Muller N.L. Niemann-Pick disease: High-resolution CT findings in two siblings. J Comput Assist Tomogr 28 (2004) 52-54
-
(2004)
J Comput Assist Tomogr
, vol.28
, pp. 52-54
-
-
Rodrigues, R.1
Marchiori, E.2
Muller, N.L.3
-
11
-
-
0022375404
-
Adult Niemann-Pick disease masquerading as sea blue histiocyte syndrome: Report of a case confirmed by lipid analysis and enzyme assays
-
Landas S., Foucar K., Sando G.N., et al. Adult Niemann-Pick disease masquerading as sea blue histiocyte syndrome: Report of a case confirmed by lipid analysis and enzyme assays. Am J Hematol 20 (1985) 391-400
-
(1985)
Am J Hematol
, vol.20
, pp. 391-400
-
-
Landas, S.1
Foucar, K.2
Sando, G.N.3
-
12
-
-
0021044954
-
Cor pulmonale in an adult secondary to Niemann-Pick disease
-
Lever A.M., and Ryder J.B. Cor pulmonale in an adult secondary to Niemann-Pick disease. Thorax 38 (1983) 873-874
-
(1983)
Thorax
, vol.38
, pp. 873-874
-
-
Lever, A.M.1
Ryder, J.B.2
-
13
-
-
0036155174
-
Gaucher and Niemann-Pick diseases-enzymatic diagnosis in dried blood spots on filter paper: Retrospective diagnoses in newborn-screening cards
-
Chamoles N.A., Blanco M., Gaggioli D., et al. Gaucher and Niemann-Pick diseases-enzymatic diagnosis in dried blood spots on filter paper: Retrospective diagnoses in newborn-screening cards. Clin Chim Acta 317 (2002) 191-197
-
(2002)
Clin Chim Acta
, vol.317
, pp. 191-197
-
-
Chamoles, N.A.1
Blanco, M.2
Gaggioli, D.3
-
14
-
-
0041304773
-
Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients
-
Sikora J., Pavlu-Pereira H., Elleder M., et al. Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. Ann Hum Genet 67 (2003) 63-70
-
(2003)
Ann Hum Genet
, vol.67
, pp. 63-70
-
-
Sikora, J.1
Pavlu-Pereira, H.2
Elleder, M.3
-
15
-
-
33645678849
-
Acid sphingomyelinase deficiency: Cardiac dysfunction and characteristic findings of the coronary arteries
-
Ishii H., Takahashi T., Toyono M., et al. Acid sphingomyelinase deficiency: Cardiac dysfunction and characteristic findings of the coronary arteries. J Inherit Metab Dis 29 (2006) 232-234
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 232-234
-
-
Ishii, H.1
Takahashi, T.2
Toyono, M.3
-
16
-
-
0036932577
-
Niemann-Pick disease: A rare problem in anaesthesiological practice
-
Bujok L.S., Bujok G., and Knapik P. Niemann-Pick disease: A rare problem in anaesthesiological practice. Paediatr Anaesth 12 (2002) 806-808
-
(2002)
Paediatr Anaesth
, vol.12
, pp. 806-808
-
-
Bujok, L.S.1
Bujok, G.2
Knapik, P.3
-
17
-
-
0042344944
-
Effects of propofol, desflurane, and sevoflurane on recovery of myocardial function after coronary surgery in elderly high-risk patients
-
De Hert S.G., Cromheecke S., ten Broecke P.W., et al. Effects of propofol, desflurane, and sevoflurane on recovery of myocardial function after coronary surgery in elderly high-risk patients. Anesthesiology 99 (2003) 314-323
-
(2003)
Anesthesiology
, vol.99
, pp. 314-323
-
-
De Hert, S.G.1
Cromheecke, S.2
ten Broecke, P.W.3
-
18
-
-
29244470323
-
Modulation of systemic inflammatory response after cardiac surgery
-
Raja S.G., and Dreyfus G.D. Modulation of systemic inflammatory response after cardiac surgery. Asian Cardiovasc Thorac Ann 13 (2005) 382-395
-
(2005)
Asian Cardiovasc Thorac Ann
, vol.13
, pp. 382-395
-
-
Raja, S.G.1
Dreyfus, G.D.2
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