Results 11 to 20 of about 5,921 (149)

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

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

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

International Journal of Molecular Sciences, 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
Angel Gaudioso, Edward Schuchman, Josefina Casas   +2 more
exaly   +5 more sources

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

Journal of Clinical Medicine
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.
Annamaria Sapuppo, Paolo Colomba, Nicola Vitturi   +2 more
exaly   +4 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

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

Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective [PDF]

Scientific Reports, 2021
Acid sphingomyelinase deficiency (ASMD), historically known as Niemann–Pick disease (NPD) types A, A/B, and B, is a rare, progressive, potentially fatal lysosomal storage disease with a spectrum of phenotypes.
Robin Pokrzywinski, Asha Hareendran, Luba Nalysnyk, Sandy Cowie, Joslyn Crowe, Justin Hopkin, Dhaivat Joshi, Ruth Pulikottil-Jacob   +7 more
doaj   +3 more sources

Desensitization of olipudase alfa-induced anaphylaxis in a child with chronic neurovisceral acid sphingomyelinase deficiency [PDF]

Molecular Genetics and Metabolism Reports
Olipudase alfa is indicated for the non-central nervous system manifestations of Acid sphingomyelinase deficiency (ASMD). Anaphylaxis is a very rare and life-threatening adverse reaction described for this drug.
Laura Fiori, Veronica Maria Tagi, Chiara Montanari, Mirko Gambino, Veronica Carlevatti, Carmela Zizzo, Enza D'Auria, Dario Dilillo, Elvira Verduci, Gianvincenzo Zuccotti   +9 more
doaj   +2 more sources

Screening for acid sphingomyelinase deficiency in patients with an interstitial lung disease [PDF]

Orphanet Journal of Rare Diseases
Marie Vermant, Ilse Van Raemdonck, Nathalie Veyt, Marianne S. Carlon, Emanuela Elsa Cortesi, Nico De Crem, Marieke De Rooy, Tine Follet, Stefan Gogaert, Bart Vanaudenaerde, David Cassiman, Laurens J. De Sadeleer, Wim A. Wuyts   +12 more
doaj   +2 more sources

Case report: The spectrum of SMPD1 pathogenic variants in Hungary

Frontiers in Genetics, 2023
Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease caused by biallelic pathogenic variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene.
Maria Judit Molnar, Maria Judit Molnar, Tamas Szlepak, Tamas Szlepak, Ildikó Csürke, Szendile Loth, Rita Káposzta, Melinda Erdős, Antal Dezsőfi   +8 more
doaj   +1 more source