Results 91 to 100 of about 15,882 (175)

A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil. [PDF]

J Clin Med
Giugliani R, Siqueira ACM, Martins AM, Marcondes BF, Souza CFM, Dain Gandelman Horovitz D, Leão EKE, Gusto G, Carvalho GDS, Artigalás O, Boy R, Stefani RR, Rawat NS, Konidaris G.   +13 more
europepmc   +1 more source

Acid sphingomyelinase is a gatekeeper of placental labyrinthine architecture and function. [PDF]

Development
Rovic I, Szelag K, Li H, McQuaid R, Sugin S, Wu Q, Theodora N, Sled J, Jurisicova A.   +8 more
europepmc   +1 more source

Role of acid sphingomyelinase in steatohepatitis

, 2013
This thesis has been prepared in the Department of Cell Death and Proliferation of the Institute of Biomedical Research of Barcelona (IIBB), Spanish National Research Council (CSIC).-- A dissertation submitted to the Medical School of the University of Barcelona in partial fulfillment of the requirements for the degree of Doctor of Philosophy in ...
openaire   +1 more source

Zuclopenthixol inhibits residual activity of acid sphingomyelinase in Niemann pick disease type B: a case report with in vitro validation. [PDF]

Orphanet J Rare Dis
Schiller M, Steiner KM, Bonnet U, Gulbins E, Scherbaum N.   +4 more
europepmc   +1 more source

Plasma acid sphingomyelinase activity in sepsis: diagnostic utility and association with disease severity. [PDF]

Crit Care
Park MH, Jin HK, Choi BJ, Yoon HJ, Cheon DH, Jung S, Kim C, Bae JS.   +7 more
europepmc   +1 more source

Retention of lysosomal acid sphingomyelinase protects from Niemann-Pick Disease. [PDF]

Neurobiol Dis
Beard CA, Hermanson KN, Snider JM, Hara A, Dahl BK, Allopenna JJ, Marron MT, Newcomb B, Low BE, Wiles MV, Jenkins RW, Obeid LM, Hannun YA, Snider AJ.   +13 more
europepmc   +1 more source

Metabolic improvement in patients with acid sphingomyelinase deficiency following intravenous trehalose administration: an untargeted pharmacometabolomic study. [PDF]

Orphanet J Rare Dis
Khoshakhlagh M, Hasanpour M, Iranshahi M, Asili J, Tasbandi A, Jamialahmadi T, Sahebkar A, Iranshahy M.   +7 more
europepmc   +1 more source

Olipudase alfa treatment for pediatric acid sphingomyelinase deficiency in Egypt: A prospective, observational cohort study with an interventional subgroup. [PDF]

Mol Genet Metab Rep
Arafa NA, Mahfouz A, Anwar S, Marzouk I.
europepmc   +1 more source

Correction: Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes. [PDF]

Orphanet J Rare Dis
Villeneuve T, Jamme T, Schwob R, Levade T, Prévot G.   +4 more
europepmc   +1 more source

Foamy Macrophages and Blue Histiocytes as Diagnostic Clues to Acid Sphingomyelinase Deficiency. [PDF]

EJHaem
Franch A, Ribell Bachs M, Álamo Moreno JR.   +2 more
europepmc   +1 more source