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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.
Wuh-Liang Hwu +2 more
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Embedded Processor Design in FPGA by ASMD-FSMD and FSM-Single Techniques
Lecture Notes in Computer Science, 2022Valery Salauyou, Salauyou Valery
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Digital Device Design by ASMD-FSMD Technique
2021Recently, there has been an increase in the complexity of digital device designs and an increase in the requirements for the development time and the reliability of the products. The developing new techniques for designing digital devices is one of the directions to solve this problem.
Valery Salauyou, Adam Klimowicz
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Design of UART Module using ASMD Technique
2020 5th International Conference on Communication and Electronics Systems (ICCES), 2020Universal Asynchronous Receiver Transmitter (UART) is an integrated circuit, which is commonly included in microcontrollers and it is usually operated at a baud rate of 20Mbps, which is usually achieved by using a clock of 20MHz. Due to its advantages such as high reliability, long-distance range, and low cost, it is widely used in the data ...
K B Sowmya +2 more
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Orphanet Journal of Rare Diseases, 2017 Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B).
Olivier Lidove
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Machine learned decision tree for diagnosis of ASMD among patients with unexplained ILD
Pneumologie, 2023Francesco Bonella +2 more
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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 ...
Kyeong Hur, Hur Kyeong
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Cross-media Storytelling Strategy Utilizing N-Screen Service: Focusing on ASMD
The Journal of the Korea Contents Association, 2014 Donghee Shin, Hee-Kyung Kim
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A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD
Nature Genetics, 1998We report here the identification of a new human homeobox gene, PITX3, and its involvement in anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts in humans. The PITX3 gene is the human homologue of the mouse Pitx3 gene and is a member of the RIEG/PITX homeobox gene family.
E V, Semina +8 more
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24 Development of a suspicion index tool to aid diagnosis of ASMD disease
I) PostersEugen Mengel +2 more
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