• 대한유전성대사질환학회지
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• 제13권1호
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• pp.37-42
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• 2013

Gaucher disease is a lysosomal storage disease caused by deficiency of glucocerebrosidase (GBA). This condition is characterized by accumulation of glucocerebrosidase in liver, spleen, lung, skeletal system, and central nervous system. Gaucher disease is the prototype of disease in which efficacy of enzyme replacement therapy has been established. However, because recombinant enzyme is not able to enter the central nervous system, its efficacy is limited to the non-neurological manifestations of Gaucher disease. Importantly, approximately a half of Korean patients with Gaucher disease suffer from neurological manifestations. In addition, Korean Gaucher disease patients exhibit distinct mutation spectrum from those in other populations. Common mutations in Korean patients with Gaucher disease are also associated with neurological phenotype. Therefore, therapeutic strategies tailored to Korean patients were necessary. Interestingly, a chemical chaperone, ambroxol, has been known to increase residual enzymatic activities of the select mutant GBAs encoded by mutations prevalent in Korean patients. One promising aspect of this drug is that it can cross blood-brain barrier, and enhance the enzyme activity in the brain. In vitro study suggested this chemical chaperone as one of new therapeutic agents in Gaucher disease, and a well-designed human trial is required to confirm its efficacy.

• 한국항해항만학회:학술대회논문집
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• 한국항해항만학회 2006년도 International Symposium on GPS/GNSS Vol.1
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• pp.27-31
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• 2006

GNSS Services and Applications are today in permanent evolution in all the market sectors. This evolution comprises: ${\bullet}$ New constellations and systems, being GALILEO probably the most relevant example, but not the only one, as other regions of the world also dwell into developing their own elements (e.g. the Chinese Beidou system). ${\bullet}$ Modernisation of existing systems, as is the case of GPS and GLONASS ${\bullet}$ New Augmentation services, WAAS, EGNOS, MSAS, GRAS, GAGAN, and many initiatives from other regions of the world ${\bullet}$ Safety of Life services based on the provision of integrity and reliability of the navigation solutions through SBAS and GBAS systems, for aeronautical or maritime applications ${\bullet}$ New Professional applications, based on the unprecedented accuracies and integrity of the positioning and timing solutions of the new navigation systems with examples in science (geodesy, geophysics), Civil engineering (surveying, construction works), Transportation (fleet management, road tolling) and many others. ${\bullet}$ New Mass-market applications based on cheap and simple GNSS receivers providing accurate (meterlevel) solutions for daily personal navigation and information needs. Being on top of this evolving market requires an active participation on the key elements that drive the GNSS development. Early access to the new GNSS signals and services and appropriate testing facilities are critical to be able to reach a good market position in time before the next evolution, and this is usually accessible only to the large system developers as the US, Europe or Japan. Jumping into this league of GNSS developers requires a large investment and a significant development of technology, which may not be at range for all regions of the world. Bearing in mind this situation, MAGIC appears as a concept initiated by a small region within Europe with the purpose of fostering and supporting the development of advanced applications for the new services that can be enabled by the advent of SBAS systems and GALILEO. MAGIC is a low cost platform based on the application of technology developed within the EGNOS project (the SBAS system in Europe), which encompasses the capacity of providing real time EGNOS and, in the near future, GALILEO-like integrity services. MAGIC is designed to be a testing platform for safety of life and liability critical applications, as well as a provider of operational services for the transport or professional sectors in its region of application. This paper will present in detail the MAGIC concept, the status of development of the system within the Madrid region in Spain, the results of the first on-field demonstrations and the immediate plans for deployment and expansion into a complete SBAS+GALILEO regional augmentation system.