- enzyme deficiency
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English-Russian small dictionary of medicine. Г.Ю. Бельман, А.Е. Бойков.. 2015.
enzyme deficiency
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Glycogen branching enzyme deficiency — (GBED) is a genetic disease affecting horses, especially American Quarter Horses and related breeds. Diagnosis, Symptoms, and PrognosisLacking an enzyme necessary for storing glycogen, the horse s brain, heart muscle, and skeletal muscles cannot… … Wikipedia
Deficiency, glucose-6-phosphate dehydrogenase (G6PD) — Deficiency of G6PD is the commonest disease causing enzyme defect in humans affecting an estimated 400 million people. The G6PD gene is on the X chromosome. Males with the enzyme deficiency develop anemia due to breakup of their red blood cells… … Medical dictionary
Enzyme replacement therapy — Die Enzymersatztherapie (EET oder ERT von engl. Enzyme Replacement Therapy) ist ein therapeutisches Verfahren zur Behandlung von Enzymdefekten bei lysosomalen Speicherkrankheiten. Den Patienten werden dabei per Infusion oder Injektion… … Deutsch Wikipedia
Deficiency, hex-A — Deficiency of the enzyme hexosaminidase A, the cause of Tay Sachs disease. Hex A deficiency results in failure to process a lipid (a fat) which accumulates and is deposited in the brain and other tissues, to their detriment. The lipid that is… … Medical dictionary
Deficiency, hexosaminidase A — Deficiency of the enzyme hexosaminidase A, the cause of Tay Sachs disease. Hex A deficiency results in failure to process a lipid (a fat) which accumulates and is deposited in the brain and other tissues, to their detriment. The lipid that is… … Medical dictionary
brancher enzyme deficiency — branch·er en·zyme de·fi·cien·cy (branchґər enґzīm) glycogen storage disease, type IV … Medical dictionary
debrancher enzyme deficiency — de·branch·er en·zyme de·fi·cien·cy (de branchґər enґzīm) glycogen storage disease, type III … Medical dictionary
Deficiency, GALT — Lack of the enzyme called GALT (galactose 1 phosphate uridyl transferase) which causes the genetic metabolic disease galactosemia, one of the diseases in many newborn screening panels. The disease can be fatal, if undetected. If detected, it can… … Medical dictionary
enzyme — /en zuym/, n. Biochem. any of various proteins, as pepsin, originating from living cells and capable of producing certain chemical changes in organic substances by catalytic action, as in digestion. Cf. ase. [1880 85; < MGk énzymos leavened (Gk… … Universalium
Enzyme-activated MR contrast agents — Molecular imaging is broadly defined as the visualization of molecular and cellular processes on either a macro or microscopic level. Because of its high spatial resolution and ability to noninvasively visualize internal organs, magnetic… … Wikipedia
Deficiency, sphingomyelinase — Also called Niemann Pick disease, this is a disorder of the metabolism of a lipid (fat) called sphingomyelin that usually causes the progressive development of enlargement of the liver and spleen (hepatosplenomegaly), swollen glands… … Medical dictionary
