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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 ...
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]
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 ...
This organization connects medical and research centers internationally in an effort to improve clinical practice, research, and general understanding of differences of sex development. [68] I-DSD regularly hosts a symposium to provide updates on current care in DSD internationally, facilitate networking for those in DSD Care, and promote high ...
During the PHS reorganizations of 1966–1973, the National Center for Health Statistics was part of the Health Services and Mental Health Administration (HSMHA), [6] and afterwards was part of the Health Resources Administration. [7] Since 1987, it has been part of the Centers for Disease Control and Prevention (CDC). [5]
Note that the PPV is not intrinsic to the test—it depends also on the prevalence. [2] Due to the large effect of prevalence upon predictive values, a standardized approach has been proposed, where the PPV is normalized to a prevalence of 50%. [11] PPV is directly proportional [dubious – discuss] to the prevalence of the disease or condition ...
In science, prevalence describes a proportion (typically expressed as a percentage). For example, the prevalence of obesity among American adults in 2001 was estimated by the U. S. Centers for Disease Control (CDC) at approximately 20.9%. [5] Prevalence is a term that means being widespread and it is distinct from incidence.
29858 Ensembl ENSG00000100417 ENSMUSG00000022474 UniProt Q92871 O35621 RefSeq (mRNA) NM_002676 NM_001282040 NM_001282041 NM_013872 RefSeq (protein) NP_002667 NP_001268969 NP_001268970 NP_038900 Location (UCSC) Chr 22: 41.58 – 41.59 Mb Chr 15: 81.84 – 81.85 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Phosphomannomutase 1 is an enzyme that in humans is encoded by the PMM1 gene ...