Results 31 to 40 of about 10,325 (203)
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
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 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
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
Modulation of Dietary Choline Uptake in a Mouse Model of Acid Sphingomyelinase Deficiency. [PDF]
Int J Mol Sci, 2023 Gaudioso Á +4 more
europepmc +2 more sources
Molecular Genetics and Metabolism Reports, 2022 Acid sphingomyelinase deficiency (ASMD) is caused by pathogenic variants in the SMPD1 gene. This chronic, progressive, and potentially fatal condition requires prompt specialist care. The diagnosis of ASMD can be delayed or missed if patients that harbor
Ulrike Blümlein +2 more
doaj +1 more source
Acid sphingomyelinase deficiency exacerbates LPS‐induced experimental periodontitis
Oral Diseases, 2020 AbstractBackgroundMutation of the gene for acid sphingomyelinase (ASMase) causes Niemann–Pick disease. However, the effect of ASMase deficiency on periodontal health is unknown. Periodontal disease is a disease resulting from infection and inflammation of periodontal tissue and alveolar bone that support the teeth.
Yanchun Li +5 more
openaire +3 more sources
Acid sphingomyelinase deficiency protects from cisplatin-induced gastrointestinal damage [PDF]
Oncogene, 2008 Cisplatin is one of the most effectively used chemotherapeutic agents for cancer treatment. However, in humans, important cytotoxic side effects are observed including dose-limiting renal damage and profound gastrointestinal symptomatology. The toxic responses to cisplatin in mice are similar to those in human patients.
Rébillard, Amélie +13 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
Acid Sphingomyelinase Deficiency Increases Susceptibility to Fatal Alphavirus Encephalomyelitis [PDF]
Journal of Virology, 2006 ABSTRACTSindbis virus (SV), an enveloped virus with a single-stranded, plus-sense RNA genome, is the prototype alphavirus in theTogaviridaefamily. In mice, SV infects neurons and can cause apoptosis of immature neurons. Sphingomyelin (SM) is the most prevalent cellular sphingolipid, is particularly abundant in the nervous systems of mammals, and is ...
Ching G, Ng, Diane E, Griffin
openaire +2 more sources