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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 ...
Epi Info is used for analysis in medical research, and for data entry. Examples of its use for research include a study of eye conditions, [6] a study of healthcare infections [7] and a study of psychiatric morbidity. [8] Examples of papers that used Epi Info for data entry include a study on nutrition [9] and an epidemiological survey about ...
The data on forms is transferred to the CDMS tool through data entry. The most popular method being double data entry where two different data entry operators enter the data in the system independently and both the entries are compared by the system. In case the entry of a value conflicts, system alerts and a verification can be done manually.
Disorders of sex development (DSDs), also known as differences in sex development or variations in sex characteristics (VSC), [2] [3] are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical. [4]
In enzymology, a 2-methyleneglutarate mutase (EC 5.4.99.4) is an enzyme that catalyzes the chemical reaction. 2-methyleneglutarate 2-methylene-3-methylsuccinate. Hence, this enzyme has one substrate, 2-methyleneglutarate, and one product, 2-methylene-3-methylsuccinate.
The data management plan describes the activities to be conducted in the course of processing data. Key topics to cover include the SOPs to be followed, the clinical data management system (CDMS) to be used, description of data sources, data handling processes, data transfer formats and process, and quality control procedure