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About 63 results

ALLMedicine™ Acid Sphingomyelinase Deficiency Center

Research & Reviews  24 results

Prospective study of the natural history of chronic acid sphingomyelinase deficiency in...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8111900
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...

Interstitial lung disease in lysosomal storage disorders.
https://doi.org/10.1183/16000617.0363-2020
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...

One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pe...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8354848
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...

Altered Macrophage Function Associated with Crystalline Lung Inflammation in Acid Sphin...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8086042
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...

Periodontal condition and treatment in a patient with rare systemic condition: A case r...
https://doi.org/10.1111/scd.12540
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...

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News  1 results

FDA grants breakthrough therapy designation to Genzyme's Olipudase Alfa
https://www.reuters.com/article/us-sanofi-fda/fda-grants-breakthrough-therapy-designation-to-genzymes-olipudase-alfa-idUSKBN0OK0CT20150604

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...

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