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About 113 results

ALLMedicine™ Acid Sphingomyelinase Deficiency Center

Research & Reviews  55 results

Altered Macrophage Function Associated with Crystalline Lung Inflammation in Acid Sphin...
https://doi.org/10.1165/rcmb.2020-0229OC
American Journal of Respiratory Cell and Molecular Biology; Poczobutt JM, Mikosz AM et. al.

Mar 4th, 2021 - Deficiency of acid sphingomyelinase (ASM) causes the lysosomal storage Niemann-Pick disease (NPD). NPD type B patients may develop progressive interstitial lung disease with frequent respiratory infections. Although several investigations using th...

Acid Sphingomyelinase Deficiency - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/npab/

Feb 24th, 2021 - The phenotype of acid sphingomyelinase deficiency (ASMD) occurs along a continuum. Individuals with the severe early-onset form, infantile neurovisceral ASMD, were historically diagnosed with Niemann-Pick disease type A (NPD-A). The later-onset, c...

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 12th, 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...

Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency.
https://doi.org/10.1002/ajmg.a.61871
American Journal of Medical Genetics. Part A REFERENCES; Bender CV, da Silveira HLD et. al.

Sep 18th, 2020 - The aim of this study was to evaluate the oral, dental, and craniofacial features of individuals affected by the chronic forms of acid sphingomyelinase deficiency (ASMD). This study comprised a sample of adult and pediatric patients (n = 8) with c...

Combined Emphysema and Interstitial Lung Disease as a Rare Presentation of Pulmonary In...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7431013
The American Journal of Case Reports; Opoka L, Wyrostkiewicz D et. al.

Aug 7th, 2020 - BACKGROUND Niemann-Pick disease is a rare genetic disorder caused by mutations in sphingomyelin phosphodiesterase 1 gene. It results in acid sphingomyelinase deficiency (ASMD) and sphingomyelin intracellular accumulation. Lung disease is diagnosed...

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Clinicaltrials.gov  57 results

Altered Macrophage Function Associated with Crystalline Lung Inflammation in Acid Sphin...
https://doi.org/10.1165/rcmb.2020-0229OC
American Journal of Respiratory Cell and Molecular Biology; Poczobutt JM, Mikosz AM et. al.

Mar 4th, 2021 - Deficiency of acid sphingomyelinase (ASM) causes the lysosomal storage Niemann-Pick disease (NPD). NPD type B patients may develop progressive interstitial lung disease with frequent respiratory infections. Although several investigations using th...

Acid Sphingomyelinase Deficiency - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/npab/

Feb 24th, 2021 - The phenotype of acid sphingomyelinase deficiency (ASMD) occurs along a continuum. Individuals with the severe early-onset form, infantile neurovisceral ASMD, were historically diagnosed with Niemann-Pick disease type A (NPD-A). The later-onset, c...

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 12th, 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...

Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency.
https://doi.org/10.1002/ajmg.a.61871
American Journal of Medical Genetics. Part A REFERENCES; Bender CV, da Silveira HLD et. al.

Sep 18th, 2020 - The aim of this study was to evaluate the oral, dental, and craniofacial features of individuals affected by the chronic forms of acid sphingomyelinase deficiency (ASMD). This study comprised a sample of adult and pediatric patients (n = 8) with c...

Combined Emphysema and Interstitial Lung Disease as a Rare Presentation of Pulmonary In...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7431013
The American Journal of Case Reports; Opoka L, Wyrostkiewicz D et. al.

Aug 7th, 2020 - BACKGROUND Niemann-Pick disease is a rare genetic disorder caused by mutations in sphingomyelin phosphodiesterase 1 gene. It results in acid sphingomyelinase deficiency (ASMD) and sphingomyelin intracellular accumulation. Lung disease is diagnosed...

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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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