Results 11 to 20 of about 2,135 (156)

Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan [PDF]

Molecular Genetics & Genomic Medicine
Background Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal disorder with diverse clinical presentations and often delayed diagnosis. This study investigates the clinical features, genetic variants, and treatment outcomes in Taiwanese patients.
Hsu‐Heng Lin, Hui‐An Chen, Shyh‐Jer Lin, Rai‐Hseng Hsu, Ni‐Chung Lee, Wuh‐Liang Hwu, Yen‐Hsuan Ni, Yen‐Yin Chou, Pao‐Chin Chiu, Steven Shinn‐Forng Peng, Yin‐Hsiu Chien   +10 more
doaj   +2 more sources

Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy—a Delphi consensus

Internal and Emergency Medicine, 2023
Acid sphingomyelinase deficiency (ASMD) is an ultra-rare disease, and several gaps of knowledge on various issues remain, particularly at a regional/national level.
Maria Domenica Cappellini, Antonio Barbato, Maria Alice Donati   +2 more
exaly   +2 more sources

High-Resolution Mass Spectrometry Method for Targeted Screening and Monitoring of Fabry, Gaucher and ASMD Using Dried Blood Spots and Capitainers: Impact of Sample Matrix on Measurement Results

International Journal of Molecular Sciences
The sphingolipidoses Fabry disease, Gaucher disease and Acid sphingomyelinase deficiency (ASMD) are the three most common lysosomal storage diseases for which treatment is currently available.
Amber Van Baelen, Stijn Verhulst, François J. M. Eyskens   +2 more
exaly   +2 more sources

Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report

Molecular Genetics and Metabolism Reports, 2020
Acid sphingomyelinase deficiency (ASMD; also known as Niemann-Pick Disease [NPD] A and B) is a rare lysosomal storage disease characterized by the pathological accumulation of sphingomyelin within multiple cell types throughout the body.
Beth L Thurberg
exaly   +3 more sources

Olipudase alfa treatment for pediatric acid sphingomyelinase deficiency in Egypt: A prospective, observational cohort study with an interventional subgroup [PDF]

Molecular Genetics and Metabolism Reports
Objectives: To present key features of pediatric acid sphingomyelinase deficiency (ASMD) and assess the clinical and safety outcomes of enzyme replacement therapy with olipudase alfa.
Nehal Abdelaziz Arafa, Aml Mahfouz, Shimaa Anwar, Iman Marzouk   +3 more
doaj   +2 more sources

Impact of Diffusing Lung Capacity for Carbon Monoxide on Mortality Risk in Patients with ASMD: Insights from a Post Hoc Analysis. [PDF]

Adv Ther
Introduction Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder with heterogenous clinical manifestations, including interstitial lung disease (ILD).
Wuyts WA, Bonella F, Scarpa M, Kapetanakis V, Shukla P, Fournier M, Gasparic M, Pulikottil-Jacob R.   +7 more
europepmc   +2 more sources

Assessment of health state utilities associated with adult and pediatric acid sphingomyelinase deficiency (ASMD)

European Journal of Health Economics
Acid sphingomyelinase deficiency (ASMD) type B is a rare genetic disorder leading to enlargement of the spleen and liver, pulmonary dysfunction, and other symptoms.
Louis S Matza, Katie D Stewart, Maurizio Scarpa   +2 more
exaly   +2 more sources

Real-life impacts of olipudase alfa: experiences of adults receiving enzyme replacement therapy for acid sphingomyelinase deficiency—results from an international survey study [PDF]

Orphanet Journal of Rare Diseases
Background Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder caused by SMPD1 mutations, resulting in sphingomyelin accumulation and diverse manifestations.
Adel Sabet Morsy, Solomon Mbua, Toni Mathieson, Justin Hopkin, Shaun Bolton   +4 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

Early Diagnosis of Gaucher Disease and ASMD in Sardinia: The "Ichnos" Project. [PDF]

Mediterr J Hematol Infect Dis
Background: Gaucher disease (GD) and Acid Sphingomyelinase Deficiency (ASMD) are rare, chronic, function progressive, and debilitating disorders caused by the altered lysosomal enzymes glucocerebrosidase (GCase) in GD and sphingomyelinase (ASM) in ASMD ...
Costa A, Perra D, Mulas O, Podda L, Longu F, Fozza C, Palmas A, Curreli L, Cappellini MD, Zizzo C, Caocci G.   +10 more
europepmc   +2 more sources