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Page 1
Types A and B Niemann-Pick Disease.
Schuchman EH, Wasserstein MP. Schuchman EH, et al. Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:674-81. Pediatr Endocrinol Rev. 2016. PMID: 27491215 Review.
Types A and B Niemann-Pick disease.
Schuchman EH, Wasserstein MP. Schuchman EH, et al. Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):237-47. doi: 10.1016/j.beem.2014.10.002. Epub 2014 Oct 16. Best Pract Res Clin Endocrinol Metab. 2015. PMID: 25987176 Review.
Niemann-Pick disease.
Kolodny EH. Kolodny EH. Curr Opin Hematol. 2000 Jan;7(1):48-52. doi: 10.1097/00062752-200001000-00009. Curr Opin Hematol. 2000. PMID: 10608504 Review.
Lysosphingomyelin has been implicated in the nervous system involvement associated with type A disease in humans and accumulations of the NPC-1 protein and apolipoprotein D have been found in murine NP-C brain. Cells from both human and murine Niemann-Pick diseas …
Lysosphingomyelin has been implicated in the nervous system involvement associated with type A disease in humans and accumulations of the NP …
Acid sphingomyelinase.
Henry B, Ziobro R, Becker KA, Kolesnick R, Gulbins E. Henry B, et al. Handb Exp Pharmacol. 2013;(215):77-88. doi: 10.1007/978-3-7091-1368-4_4. Handb Exp Pharmacol. 2013. PMID: 23579450 Review.
The importance of the enzyme for cell functions was first recognized in Niemann-Pick disease type A and B, the genetic disorders with a massive accumulation of sphingomyelin in many organs. ...
The importance of the enzyme for cell functions was first recognized in Niemann-Pick disease type A and B …
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. Cassiman D, et al. Mol Genet Metab. 2016 Jul;118(3):206-213. doi: 10.1016/j.ymgme.2016.05.001. Epub 2016 May 11. Mol Genet Metab. 2016. PMID: 27198631 Free article. Review.
Olipudase Alfa: First Approval.
Keam SJ. Keam SJ. Drugs. 2022 Jun;82(8):941-947. doi: 10.1007/s40265-022-01727-x. Drugs. 2022. PMID: 35639287 Review.
24 results