Results 91 to 100 of about 6,119 (148)

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

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

Improvement in quality of life and general functions in pediatric acid sphingomyelinase deficiency patients after receiving olipudase alfa: A single-center experience in Taiwan. [PDF]

Mol Genet Metab Rep
Pan YW, Yu WH, Tsai MC, Chou YY.
europepmc   +1 more source

Apolipoprotein-mimetic nanodiscs reduce lipid accumulation and improve liver function in acid sphingomyelinase deficiency. [PDF]

Nanomedicine, 2023
Halseth TA, Correia AB, Schultz ML, Fawaz MV, Kuiper EQ, Kumaran P, Dorsey KH, Schuchman EH, Lieberman AP, Schwendeman A.   +9 more
europepmc   +1 more source

Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results. [PDF]

J Inherit Metab Dis
Wasserstein MP, Hollak CE, Barbato A, Gallagher RC, Giugliani R, Guelbert NB, Hennermann JB, Ikezoe T, Lachmann R, Lidove O, Mabe P, Mengel E, Scarpa M, Senates E, Tchan M, Thurberg BL, Villarrubia J, Armstrong NM, Bhushan S, Kim Y, Kumar M.   +20 more
europepmc   +1 more source

Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report. [PDF]

Front Pediatr
Kamalova A, Rakhmaeva R, Sageeva G, Safiullina R, Raimova A, Gaichik E, Nasr D, Gobarah AA, Arafat A.   +8 more
europepmc   +1 more source

Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency. [PDF]

J Inherit Metab Dis
Scarpa M, Diaz GA, Giugliani R, Jones SA, Mengel E, Guffon N, Witters P, Ganesh J, Armstrong NM, Srivastava S, Kim Y.   +10 more
europepmc   +1 more source

From Genes to Treatment: Literature Review and Perspectives on Acid Sphingomyelinase Deficiency in Children. [PDF]

Diagnostics (Basel)
Vlad RM, Vlad RM, Dobritoiu R, Pacurar D.   +3 more
europepmc   +1 more source

Real-life impacts of olipudase alfa: experiences of adults receiving enzyme replacement therapy for acid sphingomyelinase deficiency-results from an international survey study. [PDF]

Orphanet J Rare Dis
Morsy AS, Mbua S, Mathieson T, Hopkin J, Bolton S.   +4 more
europepmc   +1 more source

Short-Term Acid Sphingomyelinase Deficiency Exerts Proinflammatory and Antiapoptotic Effects during LPS-induced Lung Injury in Mice. [PDF]

Am J Respir Cell Mol Biol
Poczobutt JM, Egersdorf N, Hiltabidle MS, Nishino K, Justice MJ, Rivera T, Dubois B, Borowiec A, Mousavi-Aghdas SA, Kopf K, Gally F, Matsuda J, Berdyshev EV, Petrache I.   +13 more
europepmc   +1 more source