PMM2-congenital disorder of glycosylation - MedlinePlus
PMM2 -congenital disorder of glycosylation (PMM2 -CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. The type …
PMM2-congenital disorder of glycosylation | About the Disease
Signs and symptoms are typically evident in infancy and can include hypotonia, inverted nipples, an abnormal distribution of fat, strabismus, developmental delay, failure to thrive, seizures, …
PMM2 - Wikipedia
Phosphomannomutase 2 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate. Mannose 1-phosphate is a precursor to GDP-mannose necessary for the …
PMM2 - 维基百科，自由的百科全书
磷酸甘露糖变位酶2 （英語： Phosphomannomutase 2）是一种由 基因 PMM2 编码的 酶 [4][5]。 PMM2是一种变位酶，将 甘露糖-6-磷酸 催化异构为 甘露糖-1-磷酸。 甘露糖-1-磷酸是 鸟苷二 …
PMM2-CDG - GeneReviews® - NCBI Bookshelf
2005年8月15日 · PMM2-CDG, the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three clinical stages: infantile …
PMM2-CDG - Symptoms, Causes, Treatment | NORD
2015年8月6日 · PMM2-CDG, formerly known as congenital disorder of glycosylation type 1a, is a rare multisystem disorder that involves a normal, but complex, chemical process known as …
磷酸甘露糖变位酶 2（PMM2）基因 | MCE
该基因编码的蛋白质催化 6-磷酸甘露糖异构化为 1-磷酸甘露糖，后者是合成多萜醇-P-寡糖所必需的 GDP-甘露糖的前体。 该基因的突变已被证明会导致糖蛋白生物合成缺陷，表现为 I 型碳水 …
PMM2 Gene - GeneCards | PMM2 Protein | PMM2 Antibody
2024年12月25日 · PMM2 (Phosphomannomutase 2) is a Protein Coding gene. Diseases associated with PMM2 include Congenital Disorder Of Glycosylation, Type Ia and Cerebellar …
PMM2-CDG (CDG-Ia) - CDG Hub
Phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG) is a rare autosomal recessive genetic disorder that arises from defects in the PMM2 (phosphomannomutase 2) …
PMM-2M — Wikipédia
PMM-2M est un véhicule amphibie chenillé militaire russe capable de transporter des véhicules sur son toit et de les transporter sur l'eau à la manière d'un bac (bateau) ou d'un transbordeur.