Results 51 to 60 of about 406 (138)

Human Acid Sphingomyelinase Structures Provide Insight to Molecular Basis of Niemann-Pick Disease [PDF]

, 2016
Acid sphingomyelinase (ASM) hydrolyzes sphingomyelin to ceramide and phosphocholine, essential components of myelin in neurons. Genetic alterations in ASM lead to ASM deficiency (ASMD) and have been linked to Niemann–Pick disease types A and B. Olipudase
Edmunds, Tim, Garman, Scott C., Metcalf, Matthew C., Qiu, Huawei, Wei, Ronnie R., Zhou, Yan-Feng   +5 more
core   +3 more sources

Glycoprotein non-metastatic protein B (GPNMB) plasma values in patients with chronic visceral acid sphingomyelinase deficiency [PDF]

, 2023
Acid sphingomyelinase deficiency (ASMD) is a rare LSD characterized by lysosomal accumulation of sphingomyelin, primarily in macrophages. With the recent availability of enzyme replacement therapy, the need for biomarkers to assess severity of disease ...
Aerts, J.M.F.G., Brands, M.M.M.G., Eskes, E.C.B, Hollak, C.E.M., Lienden, M.J.C. van der, Sjouke, B., Vliet, L. van   +6 more
core   +2 more sources

O33: Impact of p.Arg610del neuroprotective genotype on disease burden and treatment response in adults with acid-sphingomyelinase deficiency: ASCEND olipudase alfa trial

Genetics in Medicine Open
Melissa Wasserstein, Monica Kumar, Nicole Armstrong, Sefika Uslu Cil, Arya Firoozan, Lisa Underhill, Robin Lachmann   +6 more
doaj   +2 more sources

Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy [PDF]

, 2020
Background: Acid sphingomyelinase deficiency (ASMD) also known as Niemann-Pick disease, is a rare lysosomal storage disorder with a diverse disease spectrum that includes slowly progressive, chronic visceral (type B) and neurovisceral forms (intermediate
Giugliani, Roberto, Jones, Simon A., Lidove, Olivier, McGovern, Margaret M., Mistry, Pramod, Munõz Rojas, Maria Verônica, Nalysnyk, Lubomyra, Schecter, Alison D., Vici, Carlo Dionisi, Wasserstein, Melissa P.   +9 more
core  

P206: Continued clinical improvements in adults with acid sphingomyelinase deficiency after 3-5 Years of olipudase alfa treatment: Final ASCEND trial results

Genetics in Medicine Open
Melissa Wasserstein, Renata Gallagher, Antonio Barbato, Roberto Giugliani, Norberto Guelbert, Julia Hennermann, Takayuki Ikezoe, Robin Lachmann, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Beth Thurberg, Nicole Armstrong, Shruti Srivastava, Urszula Wisniewska, Monica Kumar   +19 more
doaj   +2 more sources

The New Paradigms in Clinical Research: From Early Access Programs to the Novel Therapeutic Approaches for Unmet Medical Needs. [PDF]

, 2019
Despite several innovative medicines gaining worldwide approval in recent years, there are still therapeutic areas for which unsatisfied therapeutic needs persist.
Berrino L, Capuano A, di Mauro G, Mascolo A, Rossi F, Scavone C   +5 more
core   +4 more sources

Zebra-Sphinx: Modeling Sphingolipidoses in Zebrafish [PDF]

, 2023
Sphingolipidoses are inborn errors of metabolism due to the pathogenic mutation of genes that encode for lysosomal enzymes, transporters, or enzyme cofactors that participate in the sphingolipid catabolism.
Capoferri, Davide, Corli, Marzia, Guerra, Jessica, Mignani, Luca, Presta, Marco   +4 more
core   +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

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Acid sphingomyelinase deficiency (ASMD) is a rare debilitating lysosomal storage disease resulting in multisystemic disease manifestations, significant disease burden, and early mortality for some individuals. Enzyme replacement therapy (ERT) with olipudase alfa (Xenpozyme) is the first disease‐specific treatment indicated for noncentral ...
Melissa P. Wasserstein, Carla E. Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Robin Lachmann, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Beth L. Thurberg, Jesus Villarrubia, Nicole M. Armstrong, Shashi Bhushan, Yong Kim, Monica Kumar   +20 more
wiley   +1 more source

History and Future Perspectives on the Discipline of Quantitative Systems Pharmacology Modeling and Its Applications [PDF]

, 2021
Mathematical biology and pharmacology models have a long and rich history in the fields of medicine and physiology, impacting our understanding of disease mechanisms and the development of novel therapeutics.
Benedetto Piccoli, Chanchala D. Kaddi, Jane P. F. Bai, Jeffrey S. Barrett, Karim Azer, Luca Marchetti, Nathaniel J. Merrill, Nitin S. Baliga, Rosario Lombardo, Sean T. McQuade, Selva Rupa Christinal Immanuel, Silvia Parolo, Susana Neves-Zaph   +12 more
core   +1 more source

Diagnosis and Treatment Challenges of Niemann – Pick Disease, Type B: Clinical Case

Вопросы современной педиатрии
Background. Niemann – Pick disease (NPD) is a rare autosomal recessive disease caused by acid sphingomyelinase deficiency and characterized by impaired intracellular lipids’ transport leading to accumulation of cholesterol and glycosphingolipids in the ...
Diana V. Golygina, Aikhee K.-D. Begzy, Viktoriya A. Deeva, Natalya N. Borovik, Vladimir A. Shcherbak   +4 more
doaj   +1 more source