Search results
Results from the WOW.Com Content Network
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 ...
The Marine Hospital Service, predecessor of the Public Health Service (PHS), began collecting data on communicable diseases and performing surveillance of the incidence and distribution of diseases due to an 1878 act of Congress. In 1893, another law provided for weekly collection of data from state and municipal authorities. [1]
Epidemiologists help with study design, collection, and statistical analysis of data, amend interpretation and dissemination of results (including peer review and occasional systematic review). Epidemiology has helped develop methodology used in clinical research , public health studies, and, to a lesser extent, basic research in the biological ...
Data collection or data gathering is the process of gathering and measuring information on targeted variables in an established system, which then enables one to answer relevant questions and evaluate outcomes. Data collection is a research component in all study fields, including physical and social sciences, humanities, [2] and business ...
The chart portion of the forest plot will be on the right hand side and will indicate the mean difference in effect between the test and control groups in the studies. A more precise rendering of the data shows up in number form in the text of each line, while a somewhat less precise graphic representation shows up in chart form on the right.
On July 21, 2023, the OMB delineated 7 combined statistical areas, 22 metropolitan statistical areas, and 6 micropolitan statistical areas in Florida. [ 1 ] [ 2 ] As of 2023, the largest of these is the Miami-Port St. Lucie-Fort Lauderdale, FL CSA , inclusive of the southeastern region of the state centered on Miami .