Results 1 to 10 of about 3,491 (198)

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   +3 more sources

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

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   +5 more sources

High-Performance Digital Devices Design by the ASMD-FSMD Technique for Implementation in FPGA

Applied Sciences (Switzerland)
The paper presents an application of the ASMD-FSMD technique for designing high-performance digital circuits on the example of an implementation of sequential multipliers in reconfigurable FPGA devices. The method primarily enables multiple operations on
Valery Salauyou, Adam Klimowicz, Tomasz Grześ   +2 more
exaly   +4 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

Benchmarking Adaptive Steered Molecular Dynamics (ASMD) on CHARMM Force Fields

ChemPhysChem, 2022
AbstractThe potentials of mean force (PMFs) along the end‐to‐end distance of two different helical peptides have been obtained and benchmarked using the adaptive steered molecular dynamics (ASMD) method. The results depend strongly on the choice of force field driving the underlying all‐atom molecular dynamics, and are reported with respect to the ...
Caley R Allen, Hailey R Bureau, T. Dwight McGee Jr.   +2 more
exaly   +3 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

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

Molecular Genetics and Metabolism, 2019
Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, results from mutations in SMPD1, the gene encoding acid sphingomyelinase (ASM). As a result, sphingomyelin accumulates in multiple organs including spleen, liver, lung, bone marrow, lymph nodes, and in the most severe form, in the CNS and peripheral nerves.
Melissa P Wasserstein, Carlo Dionisi-Vici, Roberto Giugliani   +2 more
exaly   +3 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

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

Sevoflurane versus propofol and the long‐term risk of attention‐deficit/hyperactivity disorder in children [PDF]

Gen Psychiatr
Abstract Background Preclinical studies have shown that volatile anaesthetics, particularly sevoflurane, can disrupt neurodevelopment by inducing neuronal apoptosis, neuroinflammation and altered synaptic plasticity during critical periods of brain maturation.
Sun M, Wang Y, Tang Y, Xie P, Mao T, Lu Z, Wang J, Zhao L, Fu S, Miao M, Chen W, Wu S, Zhang J.   +12 more
europepmc   +2 more sources