Cargando…

Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective

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 hepato...

Descripción completa

Detalles Bibliográficos
Autores principales:	Pinto, Carolina, Sousa, Diana, Ghilas, Vladimir, Dardis, Andrea, Scarpa, Maurizio, Macedo, Maria Fatima
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8657623/ https://www.ncbi.nlm.nih.gov/pubmed/34884674 http://dx.doi.org/10.3390/ijms222312870

Ejemplares similares

Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancy
por: Sechi, Annalisa, et al.
Publicado: (2021)

Prevalence of Cancer in Acid Sphingomyelinase Deficiency
por: Mauhin, Wladimir, et al.
Publicado: (2021)

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)
por: Wasserstein, Melissa, et al.
Publicado: (2018)

Apoptosis and signalling in acid sphingomyelinase deficient cells
por: Sillence, Dan J
Publicado: (2001)

Acid Sphingomyelinase Deficiency Ameliorates Farber Disease
por: Beckmann, Nadine, et al.
Publicado: (2019)

Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective
por: Pokrzywinski, Robin, et al.
Publicado: (2021)

One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency
por: Diaz, George A., et al.
Publicado: (2021)

One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency
por: Diaz, George A., et al.
Publicado: (2022)

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
por: Geberhiwot, Tarekegn, et al.
Publicado: (2023)

Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
por: Kubaski, Francyne, et al.
Publicado: (2022)

Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results
por: Diaz, George A., et al.
Publicado: (2022)

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
por: McGovern, Margaret M., et al.
Publicado: (2017)

Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results
por: Diaz, George A., et al.
Publicado: (2023)

Novel breakthrough in the treatment of sphingomyelinase deficiency
por: Sultan, Wania, et al.
Publicado: (2023)

Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency
por: Breilyn, Margo Sheck, et al.
Publicado: (2021)

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)
por: McGovern, Margaret M., et al.
Publicado: (2017)

Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France
por: Mauhin, Wladimir, et al.
Publicado: (2022)

Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency
por: Wang, Neng-Li, et al.
Publicado: (2022)

Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency
por: Keatinge, Marcus, et al.
Publicado: (2023)

Modulation of Dietary Choline Uptake in a Mouse Model of Acid Sphingomyelinase Deficiency
por: Gaudioso, Ángel, et al.
Publicado: (2023)

Acid sphingomyelinase deals the seal
por: Short, Ben
Publicado: (2010)

Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective
por: Arslan, Nur, et al.
Publicado: (2023)

Sphingomyelin 16:0 is a therapeutic target for neuronal death in acid sphingomyelinase deficiency
por: Gaudioso, Ángel, et al.
Publicado: (2023)

Acid sphingomyelinase deficiency enhances myelin repair after acute and chronic demyelination
por: Chami, Marwan, et al.
Publicado: (2017)

Case Report of Gastrointestinal Bleeding in an Adult with Chronic Visceral Acid Sphingomyelinase Deficiency
por: Cassiman, David, et al.
Publicado: (2019)

P1483: LONG-TERM IMPACT OF OLIPUDASE ALFA ENZYME REPLACEMENT THERAPY ON SPLEEN VOLUME AND HEMATOLOGIC MANIFESTATIONS IN CHILDREN AND ADULTS WITH CHRONIC ACID SPHINGOMYELINASE DEFICIENCY
por: Villarrubia, Jesus, et al.
Publicado: (2023)

Neutral sphingomyelinase-2, acid sphingomyelinase, and ceramide levels in COPD patients compared to controls
por: Lea, Simon R, et al.
Publicado: (2016)

Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency
por: Di Rocco, Maja, et al.
Publicado: (2023)

Crystal structure of mammalian acid sphingomyelinase
por: Gorelik, Alexei, et al.
Publicado: (2016)

Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial
por: Wasserstein, Melissa P., et al.
Publicado: (2023)

Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency
por: Thurberg, Beth L., et al.
Publicado: (2016)

Olipudase Alfa in Non-CNS Manifestations of Acid Sphingomyelinase Deficiency: A Profile of Its Use
por: Syed, Yahiya Y.
Publicado: (2023)

Inhibition of fatty acid amide hydrolase prevents pathology in neurovisceral acid sphingomyelinase deficiency by rescuing defective endocannabinoid signaling
por: Bartoll, Adrián, et al.
Publicado: (2020)

CD28 signals through acidic sphingomyelinase
Publicado: (1995)

Identification of Novel Functional Inhibitors of Acid Sphingomyelinase
por: Kornhuber, Johannes, et al.
Publicado: (2011)

Inhibition of acid sphingomyelinase by tricyclic antidepressants and analogons
por: Beckmann, Nadine, et al.
Publicado: (2014)

Regulation of hematogenous tumor metastasis by acid sphingomyelinase
por: Carpinteiro, Alexander, et al.
Publicado: (2015)

The acid sphingomyelinase/ceramide system in COVID-19
por: Kornhuber, Johannes, et al.
Publicado: (2021)

Acid Sphingomyelinase Is a Modulator of Contextual Fear
por: Zoicas, Iulia, et al.
Publicado: (2022)

Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges
por: Blümlein, Ulrike, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_ebknhj5maspl8ok63obmiuq5u8