Results 111 to 120 of about 5,921 (149)

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

Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data. [PDF]

Mol Genet Metab Rep
Doerr A, Farooq M, Faulkner C, Gould R, Perry K, Pulikottil-Jacob R, Rajasekhar P.   +6 more
europepmc   +1 more source

Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency. [PDF]

Orphanet J Rare Dis
Raebel EM, Wiseman S, Donnelly C, Mathieson T, Pountney J, Crowe J, Hopkin J.   +6 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

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, Marie T Vanier, Roseline Froissart   +2 more
exaly   +4 more sources

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 Elena Dardis, Maurizio Scarpa, Macedo Mf   +2 more
exaly   +5 more sources

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.
Stephanie Kadow, Fabian Schumacher, Burkhard Kleuser   +2 more
exaly   +5 more sources