Results 81 to 90 of about 1,516 (160)

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HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison study

Molecular Genetics and Metabolism Reports
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease with multisystem complications including neurodegeneration, hepatosplenomegaly, interstitial lung disease (ILD), bone marrow disease, and growth failure.
Drew B. Sinha, William L. Simpson, Andrew Ting, Louise Bier, Mary Freeman, Lauren Mackenzie Mason, George A. Diaz, Jaya Ganesh   +7 more
doaj   +1 more source

Screening for acid sphingomyelinase deficiency in patients with an interstitial lung disease. [PDF]

Orphanet J Rare Dis
Vermant M, Van Raemdonck I, Veyt N, Carlon MS, Cortesi EE, De Crem N, De Rooy M, Follet T, Gogaert S, Vanaudenaerde B, Cassiman D, De Sadeleer LJ, Wuyts WA.   +12 more
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

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

Acid Sphingomyelinase Activity in Dried Blood Spot from Neonatal Intensive Care Unit-Admitted Neonates: A Pilot Study for Expanded Newborn Screening in Japan. [PDF]

Int J Neonatal Screen
Kato A, Noguchi A, Adachi H, Takahashi K, Ito M, Ito T, Ota S, Arai H.   +7 more
europepmc   +1 more source

Impact of Diffusing Lung Capacity for Carbon Monoxide on Mortality Risk in Patients with ASMD: Insights from a Post Hoc Analysis. [PDF]

Adv Ther
Wuyts WA, Bonella F, Scarpa M, Kapetanakis V, Shukla P, Fournier M, Gasparic M, Pulikottil-Jacob R.   +7 more
europepmc   +1 more source

The Role of Metal Complexation in the Unfolding Energetics of a Nudix Hydrolase. [PDF]

Biochemistry
Alt N, Zhuang Y, Quirk S, Hernandez R.
europepmc   +1 more source

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 IgE-mediated anaphylaxis prevented by omalizumab and tailored desensitization in a child with acid sphingomyelinase deficiency. [PDF]

Pediatr Allergy Immunol
Fiori L, Tagi VM, Beretta S, Montanari C, Greco IP, Zuccotti G, D'Auria E.   +6 more
europepmc   +1 more source