Results 1 to 10 of about 6,119 (148)

Acid sphingomyelinase deficiency in France: a retrospective survival study [PDF]

Orphanet Journal of Rare Diseases
Background Acid sphingomyelinase deficiency (ASMD) or Niemann–Pick disease types A, A/B, and B is a progressive, life-limiting, autosomal recessive disorder caused by sphingomyelin phosphodiesterase 1 (SMPD1) gene mutations.
Wladimir Mauhin, Nathalie Guffon, Marie T. Vanier, Roseline Froissart, Aline Cano, Claire Douillard, Christian Lavigne, Bénédicte Héron, Nadia Belmatoug, Yurdagül Uzunhan, Didier Lacombe, Thierry Levade, Aymeric Duvivier, Ruth Pulikottil-Jacob, Fernando Laredo, Samia Pichard, Olivier Lidove, ASSUR Study Group   +17 more
doaj   +5 more sources

The impact of sphingomyelin on the pathophysiology and treatment response to olipudase alfa in acid sphingomyelinase deficiency [PDF]

Genetics in Medicine Open
Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder caused by pathogenic variants in the SMPD1 gene causing low or absent activity of the enzyme acid sphingomyelinase, resulting in subsequent accumulation of its substrate ...
Monica Kumar, Mario Aguiar, Andreas Jessel, Beth L. Thurberg, Lisa Underhill, Holly Wong, Kelly George, Vanessa Davidson, Edward H. Schuchman   +8 more
doaj   +4 more sources

Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy [PDF]

International Journal of Neonatal Screening
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder with a broad clinical spectrum. Early diagnosis and initiation of treatment are crucial for improving outcomes, yet the disease often goes undiagnosed due to its rarity and ...
Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Christian Loro, Elena Porcù, Leonardo Salviati, Alessandro P. Burlina, Alberto B. Burlina   +7 more
doaj   +4 more sources

Case Report: Two years of compassionate use with Olipudase-alfa in a child with neurovisceral acid sphingomyelinase deficiency [PDF]

Frontiers in Pediatrics
Acid sphingomyelinase deficiency (ASMD) is a rare, progressive lysosomal storage disorder resulting from a deficiency in acid sphingomyelinase, leading to sphingomyelin accumulation and multi-organ damage. ASMD presents a broad phenotypic spectrum with a
Federica Deodato, Sara Boenzi, Benedetta Greco, Alessia Graziosi, Carlo Dionisi-Vici   +4 more
doaj   +4 more sources

Potential Mechanisms of Platelet Dysfunction and Bleeding in Acid Sphingomyelinase Deficiency [PDF]

Cells
Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive lysosomal storage disorder caused by mutations in the SMPD1 gene, resulting in sphingomyelin accumulation.
Maksim Sysoev, Dmitri Solovyov, Aleksandr Shestopalov, Sergey Kutsev   +3 more
doaj   +2 more sources

A challenging case of ASMD (acid sphingomyelinase deficiency): A severe interstitial lung disorder in an asplenic patient [PDF]

Molecular Genetics and Metabolism Reports
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder with multisystemic involvement. We report a 68-year-old asplenic man with late-onset ASMD and severe interstitial lung disease, chronic respiratory failure, and markedly reduced
Arlindo Guimas, Esmeralda Martins
doaj   +2 more sources

Targeting CD44 reverses sphingomyelin-induced oligodendrocyte maturation arrest in acid sphingomyelinase deficiency [PDF]

EMBO Molecular Medicine
Loss-of-function mutations in the smpd1 gene cause acid sphingomyelinase deficiency (ASMD). Early neurodegeneration and lethality characterize its infantile neurovisceral form (type A).
Marta Guerrero-Valero, Elena Melgarejo, Miguel A Marchena, Beatriz Fernández-Gómez, Jaime Mulero-Franco, Fernando de Castro, Edward H Schuchman, María Dolores Ledesma   +7 more
doaj   +2 more sources

Plasma KL-6 reflects pulmonary severity and longitudinal response to enzyme replacement therapy in acid sphingomyelinase deficiency type B [PDF]

Molecular Genetics and Metabolism Reports
Acid sphingomyelinase deficiency (ASMD) type B is frequently complicated by interstitial lung disease without validated circulating pulmonary biomarkers.
Karla Cifuentes-Uribe, Nathalie Guffon, Lucie Boulière, Ségolène Turquier, Cécile Acquaviva-Bourdain, Roseline Froissart, Magali Pettazzoni   +6 more
doaj   +2 more sources

Metabolic improvement in patients with acid sphingomyelinase deficiency following intravenous trehalose administration: an untargeted pharmacometabolomic study [PDF]

Orphanet Journal of Rare Diseases
Background Acid sphingomyelinase deficiency (ASMD) A and B, historically known as Niemann-Pick (NP) types A (NPA) and B (NPB), are life-threatening and rare inherited lysosomal storage disorders, caused by a deficiency in the acid sphingomyelinase enzyme
Mahdieh Khoshakhlagh, Maede Hasanpour, Mehrdad Iranshahi, Javad Asili, Aida Tasbandi, Tannaz Jamialahmadi, Amirhossein Sahebkar, Milad Iranshahy   +7 more
doaj   +2 more sources

Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges

Molecular Genetics and Metabolism Reports, 2022
Acid sphingomyelinase deficiency (ASMD) is caused by pathogenic variants in the SMPD1 gene. This chronic, progressive, and potentially fatal condition requires prompt specialist care. The diagnosis of ASMD can be delayed or missed if patients that harbor
Ulrike Blümlein, Eugen Mengel, Yasmina Amraoui   +2 more
doaj   +3 more sources