Results 81 to 90 of about 6,119 (148)

Sphingomyelin-induced glucocorticoid receptor alterations lead to impaired presynaptic plasticity in acid sphingomyelinase deficient neurons

Neurobiology of Disease
Acid sphingomyelinase deficiency (ASMD) is a rare disease caused by mutations in the gene encoding ASM, an enzyme that degrades sphingomyelin (SM). In addition to SM accumulation, neuroinflammation and cognitive impairment are pathological hallmarks of ...
Sara Naya-Forcano, Ángel Gaudioso, Beatriz Soto-Huelin, Celia García-Vilela, César Venero, Edward H. Schuchman, José A. Esteban, María Dolores Ledesma   +7 more
doaj   +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

International Journal of Neonatal Screening
Acid sphingomyelinase deficiency (ASMD) is currently treatable with olipudase alfa, increasing the need for early newborn screening (NBS). We conducted a two-center pilot cohort study to characterize dried blood spot (DBS) acid sphingomyelinase (ASM ...
Akie Kato, Atsuko Noguchi, Hiroyuki Adachi, Kiichi Takahashi, Masato Ito, Tomoo Ito, Shozo Ota, Hirokazu Arai   +7 more
doaj   +1 more source

Phenotype of acid sphingomyelinase deficiency knockout mice [PDF]

Cell Death & Differentiation, 2001
openaire   +1 more source

CHARACTERIZATION AND RESCUE OF THE ALTERATIONS IN OLIGODENDROCYTES MODELING THE ACID SPHINGOMYELINASE DEFICIENCY

IBRO Neuroscience Reports, 2023
Elena Melgarejo De La Peña, Marta Guerrero-Valero, Jaime Mulero Franco, Maria Dolores Ledesma   +3 more
doaj   +1 more source

Chronic visceral acid sphingomyelinase deficiency

Acid sphingomyelinase deficiency (ASMD) is rare lysosomal storage disease in which sphingomyelin accumulates due to deficiency of the enzyme acid sphingomyelinase. ASMD covers a broad clinical spectrum with varying degrees of severity of which the chronic visceral subtype is the least severe.
openaire   +2 more sources

Niemann–Pick Disease versus acid sphingomyelinase deficiency [PDF]

Cell Death & Differentiation, 2001
J Lozano, A Morales, A Cremesti, Z Fuks, J L Tilly, E Schuchman, E Gulbins, R Kolesnick   +7 more
openaire   +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

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