Results 81 to 90 of about 15,882 (175)

Features of liver damage in Niemann — Pick disease type A, A/B and B (deficiency of acidic sphingomyelinase)

Лечащий Врач
Background. Acid sphingomyelinase deficiency (Niemann – Pick disease) leads to the intracellular accumulation of sphingomyelin within the mononuclear phagocyte system, including liver, spleen, lungs and bone marrow.
Goar B. Movsisyan, Tatyana A. Bokova
doaj   +1 more source

Acid sphingomyelinase, autophagy, and atherosclerosis [PDF]

Journal of Molecular Medicine, 2014
openaire   +2 more sources

Regulated Secretion of Acid Sphingomyelinase [PDF]

Journal of Biological Chemistry, 2010
Russell W. Jenkins, Daniel Canals, Jolanta Idkowiak-Baldys, Fabio Simbari, Patrick Roddy, David M. Perry, Kazuyuki Kitatani, Chiara Luberto, Yusuf A. Hannun   +8 more
openaire   +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

Clinical Characteristics of 19 Patients With Acid Sphingomyelinase Deficiency: A Case Series From Multiple Centers in Argentina. [PDF]

JIMD Rep
Robin MC, Durand C, Guelbert G, Guelbert N, Leguizamon M, Miñana MN, Cédola MA, de Lourdes Pacheco MG, Gonzalez E, Spallina M, Quijano S.   +10 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

Acid sphingomyelinase deficiency: Phenotypic, biochemical, and molecular heterogeneity in a series of 47 Iraqi patients from a single center. [PDF]

Mol Genet Metab Rep
Farhan R, Al-Tai M, Ahmed IA, Kareem A, Baheer S, Sadik BM, Jafar MM, Alothman MS.   +7 more
europepmc   +1 more source

Secretory Acid Sphingomyelinase in Children and Adolescents With Type 1 Diabetes. [PDF]

J Diabetes Res
Mameli C, Bolchini A, Ferrigno C, Biejat PR, Arcari A, Zecchini S, Napoli A, Redaelli FC, Macedoni M, Petitti A, Zuccotti G, Clementi E, Perrotta C.   +12 more
europepmc   +1 more source

The Acid sphingomyelinase/ceramide System in Idiopathic Inflammatory Myopathies: a Potential Treatment Target. [PDF]

Inflammation
Chen Y, Yang J, Yin G, Xie Q.
europepmc   +1 more source

Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan. [PDF]

Mol Genet Genomic Med
Lin HH, Chen HA, Lin SJ, Hsu RH, Lee NC, Hwu WL, Ni YH, Chou YY, Chiu PC, Peng SS, Chien YH.   +10 more
europepmc   +1 more source