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Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.
McGovern MM, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z, Eugen Mengel K, Mistry PK, Schuchman EH, Wasserstein MP. McGovern MM, et al. Genet Med. 2017 Sep;19(9):967-974. doi: 10.1038/gim.2017.7. Epub 2017 Apr 13. Genet Med. 2017. PMID: 28406489 Free PMC article. Review.
PURPOSE AND METHODS: An international panel of experts in the clinical and laboratory evaluation, diagnosis, treatment/management, and genetic aspects of ASMD convened to review the evidence base and share personal experience in order to develop a guideline for diagnosis of the v …
PURPOSE AND METHODS: An international panel of experts in the clinical and laboratory evaluation, diagnosis, treatment/management, and genet …
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
Schuchman EH. Schuchman EH. J Inherit Metab Dis. 2007 Oct;30(5):654-63. doi: 10.1007/s10545-007-0632-9. Epub 2007 Jul 12. J Inherit Metab Dis. 2007. PMID: 17632693 Review.
Based on these studies in the mouse model, an enzyme replacement therapy clinical trial has recently begun in adult patients with non-neurological ASM-deficient NPD....
Based on these studies in the mouse model, an enzyme replacement therapy clinical trial has recently begun in adult patients with non …
Atherogenic lipid profile in patients with Niemann-Pick disease type B: What treatment strategies?
Maines E, Franceschi R, Rizzardi C, Deodato F, Piccoli G, Gragnaniello V, Burlina A, Soffiati M. Maines E, et al. J Clin Lipidol. 2022 Mar-Apr;16(2):143-154. doi: 10.1016/j.jacl.2022.01.008. Epub 2022 Feb 1. J Clin Lipidol. 2022. PMID: 35181260 Review.
A deep understanding of the pathophysiology of dyslipidemia in ASMD may promote the identification of new targets and support the identification of new therapeutic strategies....
A deep understanding of the pathophysiology of dyslipidemia in ASMD may promote the identification of new targets and support the identifica …
Psychosocial aspects of patients with Niemann-Pick disease, type B.
Henderson SL, Packman W, Packman S. Henderson SL, et al. Am J Med Genet A. 2009 Nov;149A(11):2430-6. doi: 10.1002/ajmg.a.33077. Am J Med Genet A. 2009. PMID: 19877061
Health-care providers have only begun to understand the medical aspects of Niemann-Pick disease type B (NPDB), a relatively rare disease. ...
Health-care providers have only begun to understand the medical aspects of Niemann-Pick disease type B (NPDB), a relatively rare dise …
Simplified newborn screening protocol for lysosomal storage disorders.
Metz TF, Mechtler TP, Orsini JJ, Martin M, Shushan B, Herman JL, Ratschmann R, Item CB, Streubel B, Herkner KR, Kasper DC. Metz TF, et al. Clin Chem. 2011 Sep;57(9):1286-94. doi: 10.1373/clinchem.2011.164640. Epub 2011 Jul 19. Clin Chem. 2011. PMID: 21771947
BACKGROUND: Interest in lysosomal storage disorders, a collection of more than 40 inherited metabolic disorders, has increased because of new therapy options such as enzyme replacement, stem cell transplantation, and substrate reduction therapy. ...
BACKGROUND: Interest in lysosomal storage disorders, a collection of more than 40 inherited metabolic disorders, has increased because of ne …