Results 151 to 160 of about 2,680,532 (210)

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

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

Acid sphingomyelinase recruits palmitoylated CD36 to membrane rafts and enhances lipid uptake. [PDF]

J Biol Chem
Ding M, Zhang Y, Xu X, Zhu Y, He H, Jiang T, Huang Y, Yu W, Ou H.   +8 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

Puerarin Reversing Autophagy-Lysosomal Dysfunction via Acid Sphingomyelinase Inhibition in Cardiomyocytes. [PDF]

J Cell Mol Med
Li YP, He Q, Yu XY, Xiong ST, You HJ, Xuan Y, Liao WY, Chen ZY, Li HY, Wang W, Chen Y, Wang X.   +11 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

Outcome of enzyme replacement therapy for hematological and visceral manifestations in children with acid sphingomyelinase deficiency: a single center experience in upper Egypt. [PDF]

Mol Cell Pediatr
Youssef MAM, Shaker EH, Saleh NAM.
europepmc   +1 more source

The impact of interstitial lung disease in patients with acid sphingomyelinase deficiency (ASMD) - A case series. [PDF]

Respir Med Case Rep
Costa I Colomer J, Garcia-Moyano M, Maiz L, Perez-Tarazona S, Ruiz de Valbuena M, Ceberio L, Correcher P, Juliá-Palacios N, Morales M, Pérez-Yagüe G, Villarrubia J, Pérez-Rojo R.   +11 more
europepmc   +1 more source

Elevated Serum Levels of Acid Sphingomyelinase in Female Patients with Episodic and Chronic Migraine. [PDF]

Antioxidants (Basel)
Ouro A, Castro-Mosquera M, Rodríguez-Arrizabalaga M, Debasa-Mouce M, Custodia A, Aramburu-Núñez M, Romaus-Sanjurjo D, Casas J, Lema I, Castillo J, Leira R, Sobrino T.   +11 more
europepmc   +1 more source