Results 191 to 200 of about 10,325 (203)

Acid sphingomyelinase deficiency (Niemann‒Pick disease Type B) as an inflammatory disease

The Journal of Heart and Lung Transplantation, 2019
Olivier Lidove, Wladimir Mauhin, Jonathan London   +2 more
openaire   +2 more sources

Current and Emerging Treatments for Acid Sphingomyelinase Deficiency

Drugs
Tamires Silva Alves, Ana Luíza Fonseca Siqueira, Roberto Giugliani   +2 more
openaire   +1 more source

Imaging improvement in acid sphingomyelinase deficiency on enzyme replacement therapy

Molecular Genetics and Metabolism
William L, Simpson, Jaya, Ganesh
openaire   +2 more sources

The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency

Clinica Chimica Acta, 2018
Federica Deodato, Michela Semeraro, Elisa Sacchetti   +2 more
exaly  

Enhanced Delivery and Effects of Acid Sphingomyelinase by ICAM-1-Targeted Nanocarriers in Type B Niemann-Pick Disease Mice

Molecular Therapy, 2017
Carmen Garnacho, Melani Anita Solomon, Silvia Muro   +2 more
exaly  

Acid sphingomyelinase deficiency unusually associated with severe delay of growth

Endocrine Abstracts, 2019
Manel Naifar, Faten Kallel, Faten HadjKacem, Olfa Messoud, Sondes Messedi, Mohamed Abid, Fatma Ayedi   +6 more
openaire   +1 more source

Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency

Journal of Inherited Metabolic Disease, 1997
H, Pavlů, M, Elleder
openaire   +2 more sources

Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease

Journal of Pediatrics, 2006
Melissa P Wasserstein, Margaret M McGovern   +1 more
exaly  

Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months

Journal of Inherited Metabolic Disease, 2018
Melissa P Wasserstein, George A Diaz, Robin H Lachmann   +2 more
exaly  

Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients

Molecular Genetics and Metabolism, 2012
exaly