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PMM2 deficiency or PMM2-CDG, previously CDG-Ia, is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disease that is the most common type of congenital disorder of glycosylation or CDG. [2] PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. [3]
Since 2009, most researchers use a different nomenclature based on the gene defect (e.g. CDG-Ia = PMM2-CDG, CDG-Ib = PMI-CDG, CDG-Ic = ALG6-CDG etc.). [33] The reason for the new nomenclature was the fact that proteins not directly involved in glycan synthesis (such as members of the COG-family [ 34 ] and vesicular H+-ATPase) [ 35 ] were found ...
5373 54128 Ensembl n/a ENSMUSG00000022711 UniProt O15305 Q9Z2M7 RefSeq (mRNA) NM_000303 NM_016881 NM_001362485 RefSeq (protein) NP_000294 NP_058577 NP_001349414 Location (UCSC) n/a Chr 16: 8.46 – 8.48 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene. Function Phosphomannomutase 2 catalyzes the isomerization ...
System boundaries codes: R = reflecting, A = absorbing, T = transmitting, P = periodic, and I = interacting. * Algorithm is exact but software produced incorrect results at the time of original table compilation. † These benchmark run times are not comparable with others due to differing levels of detail.
Revolution Analytics – production-grade software for the enterprise big data analytics; RStudio – GUI interface and development environment for R; ROOT – an open-source C++ system for data storage, processing and analysis, developed by CERN and used to find the Higgs boson; Salstat – menu-driven statistics software
Medical device software that is an adjunct to another medical device and is involved in data manipulation, data analysis, data editing, image generation, determination of measurements, identification of a region of interest in an image, or identification (by an alarm or alert) of results from a monitor that are outside of an established range ...
As a digital solution for data collection and management, DHIS2 can be used for aggregate data (e.g. routine health facility data, staffing, equipment, infrastructure, population estimates, etc.), event data (e.g. disease outbreaks, survey/audit data, patient satisfaction surveys, etc.), and individual-level longitudinal data (e.g. vaccination records, lab sample collection and testing ...
IDX Systems Corporation (IDX) was a healthcare software technology company that formerly had headquarters in South Burlington, Vermont, United States. It was founded in 1969 by Robert Hoehl, Richard Tarrant, and Paul Egerman. IDX was acquired by General Electric and incorporated into its GE Healthcare business unit in 2006.