Results 111 to 120 of about 6,119 (148)

Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria. [PDF]

J Inherit Metab Dis
Eskes ECB, van Dussen L, Brands MMMG, Vaz FM, Aerts JMFG, van Kuilenburg ABP, Sjouke B, Hollak CEM.   +7 more
europepmc   +1 more source

A diagnosis of non-neuronopathic and late-onset acid sphingomyelinase deficiency (Niemann-Pick disease A/B) following bone marrow biopsy showing foamy histiocytosis. [PDF]

EJHaem
SahBandar IN, Maegawa GHB, Brandman D, Rand JH, Lim HI, Geyer JT.   +5 more
europepmc   +1 more source

Survival of patients with chronic acid sphingomyelinase deficiency (ASMD) in the United States: A retrospective chart review study. [PDF]

Mol Genet Metab Rep
Pulikottil-Jacob R, Dehipawala S, Smith B, Athavale A, Gusto G, Chandak A, Khachatryan A, Banon T, Fournier M, Guillonneau S, Pollissard L, Munoz-Rojas MV.   +11 more
europepmc   +1 more source

The Long-term Lung and Respiratory Outcomes of Acid Sphingomyelinase Deficiency: A 10- and 20-year Follow-up Study.

In Vivo
Huang YN, Chiang SL, Huang JY, Lu WL, Bau DT, Su PH, Wang CH.   +6 more
europepmc   +1 more source

Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective [PDF]

International Journal of Molecular Sciences, 2021
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease caused by deficient activity of acid sphingomyelinase (ASM) enzyme, leading to the accumulation of varying degrees of sphingomyelin. Lipid storage leads to foam cell infiltration in tissues, and clinical features including hepatosplenomegaly, pulmonary insufficiency and in some ...
Andrea Dardis, Maria F Macedo, Diana Sousa   +2 more
exaly   +5 more sources

Prevalence of Cancer in Acid Sphingomyelinase Deficiency [PDF]

Journal of Clinical Medicine, 2021
Acid sphingomyelinase deficiency (ASMD) is an inherited lysosomal disease characterised by a diffuse accumulation of sphingomyelin that cannot be catabolised into ceramide and phosphocholine. We studied the incidence of cancer in ASMD patients. We retrospectively reviewed the medical records of the adult chronic visceral ASMD patients in our cohort ...
Thierry Levade, Olivier Lidove, Marie T Vanier   +2 more
exaly   +4 more sources

Optimization of a Histopathological Biomarker for Sphingomyelin Accumulation in Acid Sphingomyelinase Deficiency [PDF]

Journal of Histochemistry and Cytochemistry, 2012
Niemann-Pick disease (types A and B), or acid sphingomyelinase deficiency, is an inherited deficiency of acid sphingomyelinase, resulting in intralysosomal accumulation of sphingomyelin in cells throughout the body, particularly within those of the reticuloendothelial system. These cellular changes result in hepatosplenomegaly and pulmonary infiltrates
Beth L Thurberg, Tatyana V Taksir
exaly   +3 more sources

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

Molecular Genetics and Metabolism, 2019
Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, results from mutations in SMPD1, the gene encoding acid sphingomyelinase (ASM). As a result, sphingomyelin accumulates in multiple organs including spleen, liver, lung, bone marrow, lymph nodes, and in the most severe form, in the CNS and peripheral nerves.
Wuh-liang Hwu, Roberto Giugliani, Carlo Dionisi-Vici   +2 more
exaly   +3 more sources