Results 11 to 20 of about 6,119 (148)

A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany [PDF]

Orphanet Journal of Rare Diseases
Background Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, potentially fatal lysosomal storage disease that exhibits a broad spectrum of clinical phenotypes.
Eugen Mengel, Nicole Muschol, Natalie Weinhold, Athanasia Ziagaki, Julia Neugebauer, Benno Antoni, Laura Langer, Maja Gasparic, Sophie Guillonneau, Marie Fournier, Fernando Laredo, Ruth Pulikottil-Jacob   +11 more
doaj   +4 more sources

Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency [PDF]

Disease Models & Mechanisms, 2023
ABSTRACT Heterozygous variants in GBA1, encoding glucocerebrosidase (GCase), are the most common genetic risk factor for Parkinson's disease (PD). Moreover, sporadic PD patients also have a substantial reduction of GCase activity. Genetic variants of SMPD1 are also overrepresented in PD cohorts, whereas a reduction of its encoded enzyme (
Marcus Keatinge, Matthew E. Gegg, Lisa Watson, Heather Mortiboys, Nan Li, Mark Dunning, Deepak Ailani, Hai Bui, Astrid van Rens, Dirk J. Lefeber, Anthony H. V. Schapira, Ryan B. MacDonald, Oliver Bandmann   +12 more
doaj   +8 more sources

Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis. [PDF]

J Clin Med
Background: Gaucher disease is a lysosomal storage disorder caused by functional glucocerebrosidase enzyme deficiency. Hepatosplenomegaly and hematological complications are found in both Gaucher disease and Acid Sphingomyelinase Deficiency, which is caused by acid sphingomyelinase dysfunction.
Giacomarra M, Colomba P, Francofonte D, Zora M, Caocci G, Diomede D, Giuffrida G, Fiori L, Montanari C, Sapuppo A, Scortechini AR, Vitturi N, Duro G, Zizzo C.   +13 more
europepmc   +4 more sources

Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency

Orphanet Journal of Rare Diseases, 2022
Background Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types.
Francyne Kubaski, Alberto Burlina, Danilo Pereira, Camilo Silva, Zackary M. Herbst, Franciele B. Trapp, Kristiane Michelin-Tirelli, Franciele F. Lopes, Maira G. Burin, Ana Carolina Brusius-Facchin, Alice B. O. Netto, Edina Poletto, Tamires M. Bernardes, Gerson S. Carvalho, Ney B. Sorte, Fernanda N. Ferreira, Nilza Perin, Marta R. Clivati, Marnie T. S. de Santana, Sandra F. G. Lobos, Emilia K. E. A. Leão, Marcelo P. Coutinho, Paola V. Pinos, Maria L. S. F. Santos, Debora A. Penatti, Charles M. Lourenço, Giulia Polo, Roberto Giugliani   +27 more
doaj   +3 more sources

Foamy Macrophages and Blue Histiocytes as Diagnostic Clues to Acid Sphingomyelinase Deficiency [PDF]

eJHaem
Deficiencia de esfingomielinasa ácida; Patología de la médula ósea; Histiocitos ...
Andrea Franch, Mònica Ribell Bachs, Jose Ramón Álamo Moreno   +2 more
doaj   +5 more sources

Modulation of Dietary Choline Uptake in a Mouse Model of Acid Sphingomyelinase Deficiency. [PDF]

Int J Mol Sci, 2023
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disorder caused by mutations in the gene-encoding acid sphingomyelinase (ASM). ASMD impacts peripheral organs in all patients, including the liver and spleen. The infantile and chronic neurovisceral forms of the disease also lead to neuroinflammation and neurodegeneration for which there is
Gaudioso Á, Moreno-Huguet P, Casas J, Schuchman EH, Ledesma MD.   +4 more
europepmc   +5 more sources

Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience. [PDF]

J Inherit Metab Dis, 2023
AbstractAcid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder (LSD) caused by reduced activity of the acid sphingomyelinase (ASM) enzyme, which leads to progressive storage of sphingomyelin and related lipids in the body. ASMD is caused by biallelic variants in the SMPD1 gene, which encodes for the ASM enzyme.
Hickey RE, Baker J.
europepmc   +4 more sources

Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes [PDF]

Orphanet Journal of Rare Diseases
Background Acid Sphingomyelinase Deficiency (ASMD) type B is a rare lysosomal disorder caused by SMPD1 mutations. Due to its low prevalence and clinical heterogeneity, diagnosis is challenging, and detection is crucial for the initiation of enzyme ...
Thomas Villeneuve, Thibaut Jamme, Robin Schwob, Thierry Levade, Grégoire Prévot   +4 more
doaj   +2 more sources

Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency

Molecular Genetics and Metabolism Reports, 2021
Introduction: A reliable biomarker is urgently needed in the diagnosis and management of acid sphingomyelinase deficiency (ASMD, also known as Niemann Pick A, A/B, and B).
Margo Sheck Breilyn, Wenyue Zhang, Chunli Yu, Melissa P. Wasserstein   +3 more
doaj   +3 more sources

Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders [PDF]

JIMD Reports
The lysosomal storage diseases chronic visceral acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are both macrophage storage disorders with overlapping clinical manifestations.
Eline C. B. Eskes, Laura vanDussen, Johannes M. F. G. Aerts, Martijn J. C. van derLienden, Mario Maas, Erik M. Akkerman, André B. P. vanKuilenburg, Barbara Sjouke, Carla E. M. Hollak   +8 more
doaj   +2 more sources