Results 71 to 80 of about 1,516 (160)
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
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
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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
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
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High-Performance Digital Devices Design by the ASMD-FSMD Technique for Implementation in FPGA
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
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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
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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
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ASMD-FSMD Technique for Digital Device Design
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Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy
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
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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
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