Results 91 to 100 of about 3,491 (198)

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

Genetics 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, Mario Aguiar, Andreas Jessel, Beth L. Thurberg, Lisa Underhill, Holly Wong, Kelly George, Vanessa Davidson, Edward H. Schuchman   +8 more
doaj   +1 more source

The Alternative Splicing Mutation Database: a hub for investigations of alternative splicing using mutational evidence

BMC Research Notes, 2008
Background Some mutations in the internal regions of exons occur within splicing enhancers and silencers, influencing the pattern of alternative splicing in the corresponding genes.
Afonin Kirill A, Wu Xiaochun, Wang Qi, Mishra Pankaj K, Deng Ying, Ilikchyan Irina, Rajesh Preeti, Bechtel Jason M, Grose William E, Wang Ye, Khuder Sadik, Fedorov Alexei   +11 more
doaj   +1 more source

The implementation problem of monetary policy [PDF]

Monetary policy - United ...
Albert E. Burger
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Impact of Potential Symptoms and Risks Associated with Acid Sphingomyelinase Deficiency on Patients and Caregivers: A Best-Worst Scaling Study

Patient 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, Nalysnyk L, Joshi D, Coulter J, Pulikottil-Jacob R   +4 more
doaj  

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

Molecular 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, Stijn Verhulst, François Eyskens   +2 more
doaj   +1 more source

Quantitative Systems Pharmacology Modeling of Acid Sphingomyelinase Deficiency and the Enzyme Replacement Therapy Olipudase Alfa Is an Innovative Tool for Linking Pathophysiology and Pharmacology

CPT: Pharmacometrics & Systems Pharmacology, 2018
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder with heterogeneous clinical manifestations, including hepatosplenomegaly and infiltrative pulmonary disease, and is associated with significant morbidity and mortality ...
Chanchala D. Kaddi, Bradley Niesner, Rena Baek, Paul Jasper, John Pappas, John Tolsma, Jing Li, Zachary van Rijn, Mengdi Tao, Catherine Ortemann‐Renon, Rachael Easton, Sharon Tan, Ana Cristina Puga, Edward H. Schuchman, Jeffrey S. Barrett, Karim Azer   +15 more
doaj   +1 more source

Wireless Channel Management Scheme for ASMD Groups in Wireless N-screen Services

Journal of Korea Multimedia Society, 2016
In this paper, a Wireless USB (WUSB) protocol is adopted for development of ASMD (Adaptive Source Multi Device) N-screen wireless services. WUSB is the USB technology merged with WiMedia PHY and Distributed-MAC (D-MAC). However, the current WUSB protocol can’t provide seamless N-screen streaming services to moving WUSB devices in home network ...
openaire   +2 more sources

The Prevalence of Renal Scar in Urinary Tract Infection Using Dimercaptosuccinic Acid (DMSA) Scan, and Related Factors in Children under 16 Years Old during the Years 2012-2016 in Sari City, Iran [PDF]

Background: Urinary tract infection is one of the main causes of renal scar that can lead to serious complications such as hypertension or chronic renal failure.
Hamid Mohammad-Jafari, Professor, Department of Pediatric Nephrolosis, Pediatric Infect, kasra karimi, Assistant Professor, Department of Pediatric, Islamic Azad unive, Neda Entezari, Medical Student, Medical School, Islamic Azad university of Tone, Pooneh Yazdani, Medical Student, School of Medicine, Mazandaran University of Me   +3 more
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The welfare cost of inflation [PDF]

Inflation (Finance ...
John A. Tatom
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Effect of alternating canal and marginal groundwater irrigation on banana yield, water use efficiency, and soil salinity under furrow plantation

Agricultural 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, Hafiz Abdul Salam, Muhammad Ashraf, Majid Taie Semiromi   +3 more
doaj   +1 more source