Results 1 to 10 of about 2,135 (156)

Survival of patients with chronic acid sphingomyelinase deficiency (ASMD) in the United States: A retrospective chart review study

Molecular Genetics and Metabolism Reports, 2023
Background: Acid sphingomyelinase deficiency (ASMD), historically known as Niemann–Pick disease type A, A/B, and B, is a rare lysosomal storage pathology with multisystemic clinical manifestations.
Sophie Guillonneau
exaly   +4 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   +3 more sources

Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data

Molecular Genetics and Metabolism Reports
Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and potentially fatal lysosomal storage disease. This two-part international study aimed to understand physician, patient, and caregivers' experiences during the ASMD diagnostic journey ...
Ruth Pulikottil-Jacob
exaly   +4 more sources

A suspicion index tool to aid the diagnosis and treatment of ASMD [PDF]

Orphanet Journal of Rare Diseases
Background The diagnosis of acid sphingomyelinase deficiency (ASMD, Niemann Pick Type A, A/B, B) is frequently delayed by years, because of its heterogeneous and often unspecific clinical features.
Anna-Maria Wiesinger, Georg Zimmermann, Wanda Lauth, Nicole Muschol, Dorothea Möslinger, Vassiliki Konstantopoulou, Sabine Scholl-Bürgi, Daniela Karall, Roberto Giugliani, Eugen Mengel, Elmar Aigner, Daniel Weghuber, Florian B. Lagler   +12 more
doaj   +3 more sources

The impact of interstitial lung disease in patients with acid sphingomyelinase deficiency (ASMD) - A case series

Respiratory Medicine Case Reports
Background: Lysosomal storage diseases (LSD) are inherited diseases caused by mutations affecting genes encoding the function of lysosomal enzymes.
Jordi Costa i Colomer, Marta Garcia-Moyano, Luis Maiz, Santiago Perez-Tarazona, Marta Ruiz de Valbuena, Leticia Ceberio, Patricia Correcher, Natalia Juliá-Palacios, Montse Morales, Gema Pérez-Yagüe, Jesús Villarrubia, Raquel Pérez-Rojo   +11 more
doaj   +2 more sources

Acid sphingomyelinase deficiency: Phenotypic, biochemical, and molecular heterogeneity in a series of 47 Iraqi patients from a single center [PDF]

Molecular Genetics and Metabolism Reports
Objectives: Acid sphingomyelinase deficiency (ASMD) is an inherited autosomal recessive disease caused by pathogenic variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene, which encodes acid sphingomyelinase (ASM).
Rabab Farhan, Mays Al-Tai, Ikhlas Ali Ahmed, Adel Kareem, Saja Baheer, Bassam Musa Sadik, Matheel Mohamed Jafar, Marwa Sabah Alothman   +7 more
doaj   +2 more sources

A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results

Genetics in Medicine, 2022
PURPOSE This trial aimed to assess the efficacy and safety of olipudase alfa enzyme replacement therapy for non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adults.
Roberto Giugliani, Michel Tchan, Robin Lachmann   +2 more
exaly   +2 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

The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region

Journal of Biochemical and Clinical Genetics, 2023
Acid sphingomyelinase deficiency (ASMD) is an autosomal-recessive progressive multiorgan metabolic disorder due to pathogenic variants in the sphingomyelin phosphodiesterase 1 gene.
Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi   +6 more
doaj   +2 more sources

Contradictory Effects on Hepatocytes in ASMD. [PDF]

Int J Mol Sci
Acid sphingomyelinase deficiency is a lysosomal storage disease that is characterized by the systemic accumulation of sphingomyelin in cells. This condition is frequently associated with hepatomegaly and hepatic dysfunction, with 91.4% of patients ...
Sysoev M, Solovyov D, Shestopalov A, Kutsev S.   +3 more
europepmc   +2 more sources