Results 151 to 160 of about 25,568 (180)

Acid sphingomyelinase modulates anxiety-like behavior likely through toll-like receptor signaling pathway. [PDF]

Mol Brain
Yuan H, Xu Y, Jiang H, Jiang M, Zhang L, Wei S, Li C, Zhao Z.   +7 more
europepmc   +1 more source

Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience. [PDF]

J Inherit Metab Dis
Hickey RE, Baker J.
europepmc   +1 more source

Liver transplantation and portacaval shunt in genetic diseases [PDF]

, 1982
Starzl, TE
core  

Enzymatic Production of Ceramide [PDF]

, 2009
Zhang, Long
core  

Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis. [PDF]

J Clin Med
Giacomarra M, Colomba P, Francofonte D, Zora M, Caocci G, Diomede D, Giuffrida G, Fiori L, Montanari C, Sapuppo A, Scortechini AR, Vitturi N, Duro G, Zizzo C.   +13 more
europepmc   +1 more source

Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals. [PDF]

Hepatol Commun
Mistry PK, Cassiman D, Jones SA, Lachmann R, Lukina E, Prada CE, Wasserstein MP, Thurberg BL, Foster MC, Patel RM, Underhill LH, Peterschmitt MJ.   +11 more
europepmc   +1 more source

Desensitization of olipudase alfa-induced anaphylaxis in a child with chronic neurovisceral acid sphingomyelinase deficiency. [PDF]

Mol Genet Metab Rep
Fiori L, Tagi VM, Montanari C, Gambino M, Carlevatti V, Zizzo C, D'Auria E, Dilillo D, Verduci E, Zuccotti G.   +9 more
europepmc   +1 more source

A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany. [PDF]

Orphanet J Rare Dis
Mengel E, Muschol N, Weinhold N, Ziagaki A, Neugebauer J, Antoni B, Langer L, Gasparic M, Guillonneau S, Fournier M, Laredo F, Pulikottil-Jacob R.   +11 more
europepmc   +1 more source

Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders. [PDF]

JIMD Rep
Eskes ECB, van Dussen L, Aerts JMFG, van der Lienden MJC, Maas M, Akkerman EM, van Kuilenburg ABP, Sjouke B, Hollak CEM.   +8 more
europepmc   +1 more source