Results 21 to 30 of about 6,119 (148)
Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective [PDF]
Scientific Reports, 2021 Acid sphingomyelinase deficiency (ASMD), historically known as Niemann–Pick disease (NPD) types A, A/B, and B, is a rare, progressive, potentially fatal lysosomal storage disease with a spectrum of phenotypes.
Robin Pokrzywinski +7 more
doaj +3 more sources
Desensitization of olipudase alfa-induced anaphylaxis in a child with chronic neurovisceral acid sphingomyelinase deficiency [PDF]
Molecular Genetics and Metabolism ReportsOlipudase 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 +9 more
doaj +2 more sources
Screening for acid sphingomyelinase deficiency in patients with an interstitial lung disease [PDF]
Orphanet Journal of Rare DiseasesMarie Vermant +12 more
doaj +2 more sources
Case report: The spectrum of SMPD1 pathogenic variants in Hungary
Frontiers in Genetics, 2023 Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease caused by biallelic pathogenic variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene.
Maria Judit Molnar +8 more
doaj +1 more source
Acid Sphingomyelinase Deficiency Ameliorates Farber Disease [PDF]
International Journal of Molecular Sciences, 2019 Farber disease is a rare lysosomal storage disorder resulting from acid ceramidase deficiency and subsequent ceramide accumulation. No treatments for Farber disease are clinically available, and affected patients have a severely shortened lifespan. We have recently reported a novel acid ceramidase deficiency model that mirrors the human disease closely.
Beckmann, Nadine +10 more
openaire +4 more sources
Cardiology and Therapy, 2023 Acid sphingomyelinase deficiency (ASMD)—also known as Niemann–Pick (NP) disease—is a rare, autosomal recessive disorder which is characterized by deficiency of the lysosomal enzyme acid sphingomyelinase (ASM), resulting in excessive storage of lipids in ...
Daniele De Feo +10 more
doaj +1 more source
Correction: Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes [PDF]
Orphanet Journal of Rare DiseasesThomas Villeneuve +4 more
doaj +2 more sources
JIMD Reports, 2021 Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease (LSD) in which sphingomyelin accumulates due to deficient acid sphingomyelinase. In the chronic visceral subtype, organ manifestations are generally limited to the spleen, liver, and ...
Eline C. B. Eskes +6 more
doaj +1 more source
Acid sphingomyelinase deficiency in Beckwith-Wiedemann syndrome [PDF]
Pathology & Oncology Research, 2000 We report the association of Beckwith-Wiedemann syndrome (BWS) and a residual acid sphingomyelinase (ASM) activity of about 35% in a 23 months old Hungarian boy. Besides the classical triad of exomphalos, macroglossia and gigantism some other BWS-related features: polyhydramnios (known from the praenatal history), hemihypertrophy, craniofacial ...
Réthy, Lajos Attila +4 more
openaire +2 more sources
The role of the host—Neutrophil biology
Periodontology 2000, EarlyView., 2023 Abstract Neutrophilic polymorphonuclear leukocytes (neutrophils) are myeloid cells packed with lysosomal granules (hence also called granulocytes) that contain a formidable antimicrobial arsenal. They are terminally differentiated cells that play a critical role in acute and chronic inflammation, as well as in the resolution of inflammation and wound ...
Iain L. C. Chapple +4 more
wiley +1 more source