Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24345
Abstract: Glycogen storage disease (GSD) Type VI is a glycogenolysis disorder caused by variants of PYGL. Knowledge about this disease is limited because only approximately 50 cases have been reported. We investigated the clinical profiles, molecular… read more here.
Keywords: disease gsd; glycogen storage; disease; gsd type ... See more keywords
Development of a PCR method for detection of Pseudoalteromonas marina associated with green spot disease in Pyropia yezoensis
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Oceanology and Limnology"
DOI: 10.1007/s00343-019-9045-5
Abstract: Pseudoalteromonas marina is one of the potential pathogens that cause green spot disease (GSD) in Pyropia yezoensis. To prevent GSD from development and spread, an effective method to detect the pathogen at early GSD infection… read more here.
Keywords: green spot; yezoensis; pcr; pseudoalteromonas marina ... See more keywords
Tight metabolic control plus ACE inhibitor therapy improves GSD I nephropathy
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-017-0054-2
Abstract: The onset of microalbuminuria (MA) heralds the onset of glomerulopathy in patients with glycogen storage disease (GSD) type I. Unlike tubulopathy, which responds to improved metabolic control, glomerulopathy in GSD I is considered refractory to… read more here.
Keywords: ace inhibitor; gsd; metabolic control; inhibitor therapy ... See more keywords
Next-generation glycogen storage diseases
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-018-00250-0
Abstract: The glycogen storage diseases (GSD) are amongst the earliest recognized inborn errors of metabolism. After the Fulda Workshop on Glycogen Storage Disease (GSD) type I in 1990, international GSD conferences have been held in Fulda… read more here.
Keywords: gsd; glycogen storage; glycogen; gene therapy ... See more keywords
Modeling for critical state line of granular soil with evolution of grain size distribution due to particle breakage
Sign Up to like & getrecommendations! Published in 2020 at "Geoscience frontiers"
DOI: 10.1016/j.gsf.2019.06.008
Abstract: Abstract Determination of the critical state line (CSL) is important to characterize engineering properties of granular soils. Grain size distribution (GSD) has a significant influence on the location of CSL. The influence of particle breakage… read more here.
Keywords: gsd; particle breakage; particle; critical state ... See more keywords
Development of a static test apparatus for evaluating the performance of three PM2.5 separators commonly used in China.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of environmental sciences"
DOI: 10.1016/j.jes.2019.06.008
Abstract: PM2.5 separator directly affects the accuracy of PM2.5 sampling. The specification testing and evaluation for PM2.5 separator is particularly important, especially under China's wide variation of terrain and climate. In this study, first a static… read more here.
Keywords: pm2 separators; test apparatus; test; gsd ... See more keywords
Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2018.09.001
Abstract: Background Glycogen storage disease type IV (GSD IV), caused by GBE1 mutations, has a quite wide phenotypic variation. While the classic hepatic form and the perinatal/neonatal neuromuscular forms result in early mortality, milder manifestations include… read more here.
Keywords: glycogen storage; analysis; disease; form ... See more keywords
A PROTEOMIC ANALYSIS OF GSD-1a IN MOUSE LIVERS: EVIDENCE FOR METABOLIC REPROGRAMMING, INFLAMMATION AND MACROPHAGE POLARIZATION.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of proteome research"
DOI: 10.1021/acs.jproteome.9b00309
Abstract: Glycogen storage disease type 1a (GSD-1a) is a rare genetic disease caused by mutations in the catalytic subunit of the enzyme glucose-6-phosphatase-alpha (G6Pase-α). The majority of patients develop long-term complications including renal failure and hepatocellular… read more here.
Keywords: metabolic reprogramming; macrophage polarization; liver; mice ... See more keywords
Canfam_GSD: De novo chromosome-length genome assembly of the German Shepherd Dog (Canis lupus familiaris) using a combination of long reads, optical mapping, and Hi-C
Sign Up to like & getrecommendations! Published in 2020 at "GigaScience"
DOI: 10.1093/gigascience/giaa027
Abstract: Abstract Background The German Shepherd Dog (GSD) is one of the most common breeds on earth and has been bred for its utility and intelligence. It is often first choice for police and military work,… read more here.
Keywords: genome assembly; german shepherd; reference; gsd ... See more keywords
An Amplified COCOMO-II Based Cost Estimation Model in Global Software Development Context
Sign Up to like & getrecommendations! Published in 2021 at "IEEE Access"
DOI: 10.1109/access.2021.3089870
Abstract: Global Software Development (GSD) projects comprise several critical cost drivers that affect the overall project cost and budget overhead. Thus, there is a need to amplify the existing model in GSD context to reduce the… read more here.
Keywords: global software; model; gsd; cost ... See more keywords
Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Genetics"
DOI: 10.1111/cge.13093
Abstract: Glycogen storage disease (GSD) type I is inborn metabolic disease characterized by accumulation of glycogen in multiple organs. We analyzed 38 patients with clinical suspicion of GSD I using Sanger and next‐generation sequencing (NGS). We… read more here.
Keywords: slc37a4; incidence gsd; disease; gsd gsd ... See more keywords