• Journal of mucopolysaccharidosis and rare diseases
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• v.5 no.1
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• pp.1-7
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• 2021

Gaucher disease (GD, OMIM #230800 OMIM#230800) is a rare, autosomal recessive inherited metabolic disorder caused by mutation in GBA1 encoding the lysosomal enzyme, glucocerebrosidase. The deficiency of glucocerebrosidase leads to an accumulation of its substrate, glucosylceramide in macrophages of various tissues. Common clinical manifestations include cytopenia, splenomegaly, hepatomegaly, and bone lesions. The phenotype of GD is classified into three clinical categories: Type 1 (non-neuronopathic) is characterized by involvements on the viscera, whereas types 2 and 3 (neuronopathic) are associated with not only visceral symptoms but also neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 should be identified as they may be of prognostic value in some cases. Biomarkers including Chitotriosidase, CCL18, and glucosylsphingosine (lyso-GL1) are useful in diagnosis and treatment monitoring. Currently available disease-specific treatment in Korea consists of intravenous enzyme replacement therapy and substrate reduction therapy. For enhancing long-term prognosis, the onset of Parkinson's disease and Lewy body dementia, or the occurrence of a blood disease or cancer (hepatocellular carcinoma) should be monitored in older patients. The development of new strategies that can modify the neurological phenotype are expected, especially in Asia including Korea, where the prevalence of neuronopathic GD is relatively higher than that in western countries.

• Clinical and Experimental Pediatrics
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• v.55 no.2
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• pp.48-53
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• 2012

Purpose: Gaucher disease is caused by a ${\beta}$-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population. Methods: Clinical findings at diagnosis, $GBA$ mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease. Results: Eleven patients were diagnosed with non-neuronopathic type, 2 with acute neuronopathic type, and 7 with chronic neuronopathic type. Most patients presented with hepatosplenomegaly, thrombocytopenia, and short stature. In the neuronopathic group, variable neurological features, such as seizure, tremor, gaze palsy, and hypotonia, were noted at age $8.7{\pm}4.3$ years. B cell lymphoma, protein-losing enteropathy, and hydrops fetalis were the atypical manifestations. Biomarkers, including chitotriosidase, acid phosphatase, and angiotensin-converting enzyme, increased at the initial evaluation and subsequently decreased with enzyme replacement treatment (ERT). The clinical findings, including hepatosplenomegaly, thrombocytopenia, and skeletal findings, improved following ERT, except for the neurological manifestations. L444P was the most common mutation in our cohort. One novel mutation, R277C, was found. Conclusion: Although the clinical outcome for Gaucher disease improved remarkably following ERT, the outcome differed according to subtype. Considering the high proportion of the neuronopathic form in the Korean population, new therapeutic strategies targeting the central nervous system are needed, with the development of a new scoring system and biomarkers representing clinical courses in a more comprehensive manner.

• Computers and Concrete
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• v.13 no.1
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• pp.17-30
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• 2014

This research presents the effect of various ground pozzolanic materials in blended cement concrete on the strength and chloride penetration resistance. An experimental investigation dealing with concrete incorporating ground fly ash (GFA), ground bottom ash (GBA) and ground rice husk ash (GRHA). The concretes were mixed by replacing each pozzolan to Ordinary Portland cement at levels of 0%, 10%, 20% and 40% by weight of binder. Three different water to cement ratios (0.35, 0.48 and 0.62) were used and type F superplasticizer was added to keep the required slump. Compressive strength and chloride permeability were determined at the ages of 28, 60, and 90 days. Furthermore, using this experimental database, linear and nonlinear multiple regression techniques were developed to construct a mathematical model of chloride permeability in concretes. Experimental results indicated that the incorporation of GFA, GBA and GRHA as a partial cement replacement significantly improved compressive strength and chloride penetration resistance. The chloride penetration of blended concrete continuously decreases with an increase in pozzolan content up to 40% of cement replacement and yields the highest reduction in the chloride permeability. Compressive strength of concretes incorporating with these pozzolans was obviously higher than those of the control concretes at all ages. In addition, the nonlinear technique gives a higher degree of accuracy than the linear regression based on statistical parameters and provides fairly reasonable absolute fraction of variance ($R^2$) of 0.974 and 0.960 for the charge passed and chloride penetration depth, respectively.

• Journal of Microbiology and Biotechnology
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• v.14 no.1
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• pp.212-215
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• 2004

In order to develop a biocontrol agent that can effectively control Fusarium wilt on Cymbidium genus, the effectiveness of antagonistic microbes against the cause pathogen was screened. The selected microbe showed a broad spectrum of antifungal activity, and the culture broth of this microbe had better preventive effect on Fusarium wilt than the commercial chemical agent in the pot assay. This isolated strain, GBA-12, was identified as Streptomyces kasugaensis, and the antifungal substance was purified from a broth culture of GBA-12. This purified substance was identified as a polyene macrolide (YS-822A) that was newly discovered from Streptomyces kasugaensis, and it exhibited antifungal activity against several phytopathogenic fungi.

• Journal of Veterinary Clinics
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• v.30 no.2
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• pp.111-114
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• 2013

A 4-year-old spayed female Miniature Pinscher was presented with a 3.5-year history of elevated liver enzymes level. Continuous elevation of liver enzymes was found on repeated blood examinations and the dog was referred for further evaluation. The abdominal ultrasonography revealed that the gallbladder could not be visualized in any plane. The absence of gallbladder was suspected on ultrasonography. Computed tomography (CT) confirmed gallbladder agenesis (GBA). This is the first reported case of diagnosis of GBA in Miniature Pinscher by using CT.

• Journal of Biomedical Engineering Research
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• v.27 no.4
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• pp.170-179
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• 2006

The purpose of this study was to investigate the spatiotemporal cortical activation pattern and functional connectivity during visual perception of words. 61 channel recordings of electroencephalogram were obtained from 15 subjects while they were judging the meaning of Korean, English, and Chinese words with concrete meanings. We examined event-related potentials (ERP) and applied independent component analysis (ICA) to find and separate simultaneously activated neural sources. Spectral analysis was also performed to investigate the gamma-band activity (GBA, 30-50 Hz) which is known to reflect feature binding. Five significant ERP components were identified and left hemispheric dominance was observed for most sites. Meaningful differences of amplitudes and latencies among languages were observed. It seemed that familiarity with each language and orthographic characteristics affected the characteristics of ERP components. ICA helped confirm several prominent sources corresponding to some ERP components. The results of spectral and time-frequency analyses showed distinct GBAs at prefrontal, frontal, and temporal sites. The GBAs at prefrontal and temporal sites were significantly correlated with the LPC amplitude and response time. The differences in spatiotemporal patterns of GBA among languages were not prominent compared to the inter-individual differences. The gamma-band coherence revealed short-range connectivity within frontal region and long-range connectivity between frontal, posterior, and temporal sites.

• Journal of Advanced Navigation Technology
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• v.19 no.3
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• pp.192-198
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• 2015

Since instrument landing system currently operating in most airports is operating in single-pass, it is not possible to accommodate a large number of aircraft. A satellite navigation system GBAS using a GNSS has been developed to solve these limitation when air traffic increases. GBAS is better than the ILS in position accuracy and capable of landing through multiple paths rather than a single path, the aircraft can perform varied landing procedures. In this paper, after we established a virtual ILS procedures at Taean Airfield in which ILS installation is impossible due to environmental requirements and airspace restrictions, flight test was performed by Cessna Skyhawk 172 to compare the virtual ILS procedures and curved approach procedure and the advantage of curved approach was confirmed.

• Journal of the Korean Society for Aeronautical & Space Sciences
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• v.37 no.12
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• pp.1232-1237
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• 2009

The ICAO and FAA are developing and verifying of GBAS for civil aircraft landing and take-off. The guarantee of aircraft integrity issue is the important part of GBAS. To guarantee integrity, the GBAS ground facility broadcasts various informations to aircraft. The informations are related to the estimated accuracy of each pseudorange correction and the estimated error terms, for example B-value and standard deviation of the ground facility error. These parameters are used to calculate position error (estimated value of the user). If estimated position errors don't satisfy requirements, aircraft use alternate navigation means. In this paper, GBAS reference stations's real data, which operated by KARI (Korea Aerospace Research Institute) in Jeju international airport, are used to development of new ground facility error standard deviation model. We verify improvement of GBAS availability, with respected to vertical protection level, using B-value based a new ground facility error standard deviation model and a sigma inflation factor.

• Journal of Environmental Science International
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• v.19 no.7
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• pp.829-841
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• 2010

The estimation of a biogenic volatile organic compound (BVOC, especially isoprene) and the influence of isoprene emissions on ozone concentrations in the Greater Busan Area (GBA) were carried out based on a numerical modeling approach during a high ozone episode. The BVOC emissions were estimated using a biogenic emission information system (BEIS v3.14) with vegetation data provided by the forest geographical information system (FGIS), land use data provided by the environmental geographical information system (EGIS), and meteorological data simulated by the MM5. Ozone simulation was performed by two sets of simulation scenarios: (1) without (CASE1) and (2) with isoprene emissions (CASE2). The isoprene emission (82 ton $day^{-1}$) in the GBA was estimated to be the most dominant BVOC followed by methanol (56) and carbon monoxide (28). Largest impacts of isoprene emissions on the ozone concentrations (CASE2-CASE1) were predicted to be about 4 ppb in inland locations where a high isoprene was emitted and to be about 2 ppb in the downwind and/or convergence regions of wind due to both the photochemical reaction of ozone precursors (e.g., high isoprene emissions) and meteorological conditions (e.g., local transport).

• Journal of Genetic Medicine
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• v.13 no.2
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• pp.72-77
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• 2016

Purpose: Gaucher disease (GD) is the most common lysosomal storage disease caused by beta-glucocerebrosidase (GBA) deficiency. Oral substrate reduction therapy with miglustat ($Zavesca^{(R)}$) was approved for the treatment of adults with GD type 1, for whom enzyme replacement therapy (ERT) is unsuitable or not a therapeutic option. In this study, we report the effect of miglustat ($Zavesca^{(R)}$) in three Korean GD patients. Materials and Methods: Clinical findings comprising age at diagnosis, presenting signs, laboratory findings at diagnosis, GBA activity and mutations, and clinical courses of the three patients were reviewed. Results: Miglustat was administered to three patients who reported allergic reactions during intravenous imiglucerase infusions. One patient withdrew after 15 months of miglustat administration owing to continuous elevation of disease biomarker levels (chitotriosidase, acid phosphatase, and angiotensin-converting enzyme). Poor adherence to medication was suspected but was denied by the patient. In the other two patients, platelet count and levels of hemoglobin and other biomarkers remained stable during miglustat administration. However, they suffered from severe diarrhea and weight loss, which led to miglustat discontinuation after 1 and 12 months of administration. Conclusion: Our study shows that although miglustat is suggested to GD patients as an alternative treatment to ERT, significant adverse reactions may lead to discontinuation of miglustat. In addition, it is difficult to monitor the drug adherence.