Results 71 to 80 of about 1,516 (160)

Impact of Potential Symptoms and Risks Associated with Acid Sphingomyelinase Deficiency on Patients and Caregivers: A Best-Worst Scaling Study

open access: yesPatient Preference and Adherence, 2023
Carol Mansfield,1 Lubomyra Nalysnyk,2 Dhaivat Joshi,2 Joshua Coulter,1 Ruth Pulikottil-Jacob3 1Health Preference Assessment, RTI Health Solutions, Research Triangle Park, North Carolina, USA; 2Health Economics and Value Assessment, Sanofi, Cambridge, MA,
Mansfield C   +4 more
doaj  

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

open access: yesGenetics 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   +8 more
doaj   +1 more source

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

open access: yesThe European Journal of Health Economics
Abstract Introduction Acid sphingomyelinase deficiency (ASMD) type B is a rare genetic disorder leading to enlargement of the spleen and liver, pulmonary dysfunction, and other symptoms. Cost-utility analyses are often conducted to quantify the value of new treatments, and these analyses require health state utilities ...
Matza, L.   +10 more
openaire   +4 more sources

Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: A case report

open access: yesMolecular Genetics and Metabolism Reports
Acid Sphingomyelinase Deficiency (ASMD) is a lysosomal storage disorder that can lead to severe complications if not promptly treated. This case aims to highlight the critical importance of early awareness of ASMD and to introduce, for the first time in ...
Amber Van Baelen   +2 more
doaj   +1 more source

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

open access: yesApplied Sciences
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 the same variable within a single clock cycle.
Valery Salauyou   +2 more
openaire   +2 more sources

Effect of alternating canal and marginal groundwater irrigation on banana yield, water use efficiency, and soil salinity under furrow plantation

open access: yesAgricultural Water Management
Banana is one of the most important cash crops in Sindh, Pakistan; however, its production is increasingly compromised due to declining freshwater availability.
Nazar Gul   +3 more
doaj   +1 more source

Unraveling atmospheric mercury dynamics at Mauna Loa through the isotopic analysis of total gaseous mercury

open access: yesEcotoxicology and Environmental Safety
Our investigation seeks to uncover the intricate nature of mercury dynamics in the free troposphere through analysis of the isotopic composition of total gaseous elemental mercury (TGM) at the high altitude Mauna Loa Observatory (MLO, 3397 m) in Hawaii ...
Akane Yamakawa   +4 more
doaj   +1 more source

ASMD-FSMD Technique for Digital Device Design

open access: yesProblems of advanced micro- and nanoelectronic systems development, 2021
openaire   +1 more source

Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy

open access: yesDiseases
Introduction: The differential diagnosis of splenomegaly is a complex process that encompasses a wide variety of diseases. Moreover, it is not always standardized and lacks a definitive consensus on which tests should be performed and in what order ...
Marta Morado Arias   +5 more
doaj   +1 more source

Favorable clinical response to olipudase alfa in a patient with two variants of uncertain significance in SMPD1: a case report

open access: yesEgyptian Journal of Medical Human Genetics
Background Acid sphingomyelinase deficiency (ASMD), also known as Niemann–Pick disease, is a rare lysosomal storage disorder caused by biallelic pathogenic variants in the Sphingomyelin phosphodiesterase 1 (SMPD1) gene, leading to the deficient activity ...
Luz María Sánchez-Sánchez   +4 more
doaj   +1 more source

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