Thurberg acid sphingomyelinase
WebDec 9, 2013 · Thurberg BL, Diaz GA, Lachmann RH, Schiano T, Wasserstein MP, Ji AJ, Zaher A, Peterschmitt MJ. Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after …
Thurberg acid sphingomyelinase
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WebExcerpted from the GeneReview: Acid Sphingomyelinase Deficiency The phenotype of acid sphingomyelinase deficiency (ASMD) occurs along a continuum. Individuals with the … WebAcid sphingomyelinase is one of the enzymes that make up the sphingomyelinase (SMase) family, responsible for catalyzing the breakdown of sphingomyelin to ceramide and …
WebApr 10, 2014 · Acid sphingomyelinase-deficient Niemann-Pick disease (ASMD) includes the severe neuronopathic type A, the non-neuronopathic type B, and rare intermediate cases. ... Thurberg BL, Wasserstein MP, Schiano T, et al. Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B) Am J Surg Pathol. WebCitation Thurberg, Beth L., Melissa P. Wasserstein, Simon A. Jones, Thomas D. Schiano, Gerald F. Cox, and Ana Cristina Puga. 2016. “Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency.” The American Journal of Surgical Pathology 40 (9): 1232-1242.
WebSep 1, 2016 · Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder characterized by the pathologic accumulation of sphingomyelin (SM) in cells throughout the body, primarily within the liver, spleen, lungs, and bone marrow, leading to significant clinical disease. ... Thurberg BL, H.Byers HR, Granter SR, ... WebFeb 25, 2024 · The phenotypeof acid sphingomyelinase deficiency (ASMD) occurs along a continuum. Individuals with the severe early-onset form, infantile neurovisceral ASMD, were historically diagnosed with Niemann …
WebSimple Summary. Cancer cells rewire their metabolism to promote growth, survival, proliferation, and long-term maintenance. Aerobic glycolysis is a prominent trait of many …
WebWasserstein MP, Jones SA, Soran H, Diaz GA, Lippa N, Thurberg BL et al. Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. Molecular Genetics and Metabolism . 2015 Sep 1;116(1-2):88-97. resin art calgaryWebMar 25, 2024 · In the LSD acid sphingomyelinase deficient Niemann-Pick disease (i.e., types A and B Niemann-Pick disease, ASMD), sphingomyelin storage is the primary metabolic abnormality [ 31 ], suggesting that CB1 activation may be a reasonable approach for the treatment of this disorder. resin art classes calgaryWebAcid sphingomyelinase deficiency (ASMD; Niemann-Pick disease type A and B) is a lysosomal storage disorder characterized by abnormal intracellular sphingomyelin (SM) accumulation. protein plus high protein shakeWebFeb 20, 2024 · Introduction to acid sphingomyelinase deficiency (ASMD) ASMD, often known as Niemann-Pick disease, is a rare, deadly lysosomal storage disorder that frequently causes early mortality. It is brought on by bi-allelic variations in the sphingomyelin phosphodiesterase 1 gene, which results in an insufficient amount of acid … resin art classes in chennaiWebAcid sphingomyelinase deficiency (ASMD) is an inherited lysosomal disease characterised by a diffuse accumulation of sphingomyelin that cannot be catabolised into ceramide and phosphocholine.... protein plus food barsWebDr. Beth L. Thurberg is a pathologist in Framingham, Massachusetts. She received her medical degree from University of Chicago Division of the Biological Sciences The Pritzker … resin art crystalsWebJul 16, 2024 · Acid sphingomyelinase deficiency (ASMD; also known as Niemann-Pick Disease [NPD] A and B) is a rare lysosomal storage disease characterized by the … resin art chopping boards