Results 141 to 150 of about 2,680,532 (210)

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

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

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

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

Increased acid sphingomyelinase levels in saliva as oral mucositis severity predictors. [PDF]

Front Oncol
Ordonez EBM, Sprave T, Thomsen AR, Schäfer H, Grosu AL, Jendrossek V, Henke M, Unger K, Klein D.   +8 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

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

Gut Microbiome-Sphingolipid Metabolism-Brain Axis Interactions: Neuroprotective Effects of Amitriptyline as Functional Inhibitor of Acid Sphingomyelinase in a Mouse Model of Tauopathy. [PDF]

J Neuroimmune Pharmacol
Ibrahim M, Khalil AM, Attia H, Alseekh S, Mohamed AF, El-Yamany MF.   +5 more
europepmc   +1 more source

Acid sphingomyelinase promotes diabetic cardiomyopathy via disruption of mitochondrial calcium homeostasis. [PDF]

Cardiovasc Diabetol
Wei Y, Ji Y, Meng J, Yu L, Tang Y, Fang WJ.   +5 more
europepmc   +1 more source