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A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes.
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 ...
Congenital disorders of glycosylation are a large group of genetic disorders in humans that are caused by defects in the enzymes and transporters responsible for glycosylation in the human body. Pages in category "Congenital disorders of glycosylation"
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An American Airlines flight departing New York's LaGuardia Airport on Thursday evening had to divert to nearby John F. Kennedy International shortly after takeoff after a reported bird strike ...
SLC35A1-CDG is a rare inherited disorder that mainly affects the vascular systems of the body. [2] It forms part of a large group of disorders called congenital disorders of glycosylation . [ 3 ] [ 4 ] It is caused by mutations in the SLC35A1 gene, located in the sixth chromosome.
Mental disorders such as depression or anxiety, schizophrenia, and personality disorders, especially when untreated. Familial or personal history of suicide. Job or financial loss.