ALLMedicine™ Acid Sphingomyelinase Deficiency Center
Research & Reviews 24 results
Orphanet Journal of Rare Diseases; McGovern MM, Wasserstein MP et. al.
May 12th, 2021 - Acid sphingomyelinase deficiency (ASMD) (also known as Niemann-Pick disease types A and B) is a rare and debilitating lysosomal storage disorder. This prospective, multi-center, multinational longitudinal study aimed to characterize the clinical f...
European Respiratory Review : an Official Journal of the ... Borie R, Crestani B et. al.
May 1st, 2021 - Lysosomes are intracellular organelles that are responsible for degrading and recycling macromolecules. Lysosomal storage diseases (LSDs) are a group of inherited diseases caused by mutations affecting genes that encode the function of the lysosom...
Genetics in Medicine : Official Journal of the American C... Diaz GA, Jones SA et. al.
Apr 21st, 2021 - To assess olipudase alfa enzyme replacement therapy for non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in children. This phase 1/2, international, multicenter, open-label trial (ASCEND-Peds/NCT02292654) admini...
American Journal of Respiratory Cell and Molecular Biology; Poczobutt JM, Mikosz AM et. al.
Mar 5th, 2021 - Deficiency of ASM (acid sphingomyelinase) causes the lysosomal storage Niemann-Pick disease (NPD). Patients with NPD type B may develop progressive interstitial lung disease with frequent respiratory infections. Although several investigations usi...
Special Care in Dentistry : Official Publication of the A... Bitencourt FV, Bender CV et. al.
Nov 13th, 2020 - Acid sphingomyelinase deficiency (ASMD) is a rare group of autosomal recessive disorders. This report provides the first detailed description of the periodontal condition and treatment response in a patient with chronic visceral ASMD. A 49-year-ol...
News 1 results
Jun 4th, 2015 - PARIS (Reuters) - Sanofi and its subsidiary Genzyme said on Thursday that the U.S. Food and Drug Administration (FDA) has granted breakthrough therapy designation to olipudase alfa. This enzyme replacement therapy is being investigated for the tre...