Results 21 to 30 of about 10,325 (203)

Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders [PDF]

JIMD Reports
The lysosomal storage diseases chronic visceral acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are both macrophage storage disorders with overlapping clinical manifestations.
Eline C. B. Eskes, Laura vanDussen, Johannes M. F. G. Aerts, Martijn J. C. van derLienden, Mario Maas, Erik M. Akkerman, André B. P. vanKuilenburg, Barbara Sjouke, Carla E. M. Hollak   +8 more
doaj   +2 more sources

Acid Sphingomyelinase–Deficient Human Lymphoblasts and Mice Are Defective in Radiation-Induced Apoptosis [PDF]

Cell, 1996
Stress is believed to activate sphingomyelinase to generate ceramide, which serves as a second messenger in initiating the apoptotic response. Conclusive evidence for this paradigm, however, is lacking. In the present study, we used a genetic approach to address this issue directly.
Santana, Pino, Peña, Louis A, Haimovitz-Friedman, Adriana, Martin, Seamus, Green, Douglas, McLoughlin, Maureen, Cordon-Cardo, Carlos, Schuchman, Edward H, Fuks, Zvi, Kolesnick, Richard   +9 more
openaire   +5 more sources

Optimization of a Histopathological Biomarker for Sphingomyelin Accumulation in Acid Sphingomyelinase Deficiency [PDF]

Journal of Histochemistry & Cytochemistry, 2012
Niemann-Pick disease (types A and B), or acid sphingomyelinase deficiency, is an inherited deficiency of acid sphingomyelinase, resulting in intralysosomal accumulation of sphingomyelin in cells throughout the body, particularly within those of the reticuloendothelial system.
Tatyana V, Taksir, Jennifer, Johnson, Colleen L, Maloney, Emily, Yandl, Denise, Griffiths, Beth L, Thurberg, Susan, Ryan   +6 more
openaire   +4 more sources

From Genes to Treatment: Literature Review and Perspectives on Acid Sphingomyelinase Deficiency in Children [PDF]

Diagnostics
Background: Acid sphingomyelinase deficiency (ASMD), most commonly known as Niemann–Pick disease (NPD), is a rare progressive genetic disorder regarding lipid storage.
Raluca Maria Vlad, Ruxandra Dobritoiu, Daniela Pacurar   +2 more
doaj   +2 more sources

Case Report: Two years of compassionate use with Olipudase-alfa in a child with neurovisceral acid sphingomyelinase deficiency [PDF]

Frontiers in Pediatrics
Acid sphingomyelinase deficiency (ASMD) is a rare, progressive lysosomal storage disorder resulting from a deficiency in acid sphingomyelinase, leading to sphingomyelin accumulation and multi-organ damage. ASMD presents a broad phenotypic spectrum with a
Federica Deodato, Sara Boenzi, Benedetta Greco, Alessia Graziosi, Carlo Dionisi-Vici   +4 more
doaj   +2 more sources

Desensitization of olipudase alfa-induced anaphylaxis in a child with chronic neurovisceral acid sphingomyelinase deficiency [PDF]

Molecular Genetics and Metabolism Reports
Olipudase alfa is indicated for the non-central nervous system manifestations of Acid sphingomyelinase deficiency (ASMD). Anaphylaxis is a very rare and life-threatening adverse reaction described for this drug.
Laura Fiori, Veronica Maria Tagi, Chiara Montanari, Mirko Gambino, Veronica Carlevatti, Carmela Zizzo, Enza D'Auria, Dario Dilillo, Elvira Verduci, Gianvincenzo Zuccotti   +9 more
doaj   +2 more sources

Acid sphingomyelinase deficiency protects mitochondria and improves function recovery after brain injury [PDF]

Journal of Lipid Research, 2019
Traumatic brain injury (TBI) is one of the leading causes of disability worldwide and a prominent risk factor for neurodegenerative diseases. The expansion of nervous tissue damage after the initial trauma involves a multifactorial cascade of events ...
Sergei A. Novgorodov, Joshua R. Voltin, Wenxue Wang, Stephen Tomlinson, Christopher L. Riley, Tatyana I. Gudz   +5 more
doaj   +3 more sources

Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

Molecular Genetics and Metabolism, 2015
Olipudase alfa, a recombinant human acid sphingomyelinase (rhASM), is an investigational enzyme replacement therapy (ERT) for patients with ASM deficiency [ASMD; Niemann-Pick Disease (NPD) A and B]. This open-label phase 1b study assessed the safety and tolerability of olipudase alfa using within-patient dose escalation to gradually debulk accumulated ...
Wasserstein, Melissa P., Jones, Simon A., Soran, Handrean, Diaz, George A., Lippa, Natalie, Thurberg, Beth L., Culm-Merdek, Kerry, Shamiyeh, Elias, Inguilizian, Haig, Cox, Gerald F., Puga, Ana Cristina   +10 more
openaire   +4 more sources

A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany [PDF]

Orphanet Journal of Rare Diseases
Background Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, potentially fatal lysosomal storage disease that exhibits a broad spectrum of clinical phenotypes.
Eugen Mengel, Nicole Muschol, Natalie Weinhold, Athanasia Ziagaki, Julia Neugebauer, Benno Antoni, Laura Langer, Maja Gasparic, Sophie Guillonneau, Marie Fournier, Fernando Laredo, Ruth Pulikottil-Jacob   +11 more
doaj   +2 more sources

Foamy Macrophages and Blue Histiocytes as Diagnostic Clues to Acid Sphingomyelinase Deficiency [PDF]

eJHaem
Andrea Franch, Mònica Ribell Bachs, Jose Ramón Álamo Moreno   +2 more
doaj   +2 more sources