Примери за използване на Rare inherited на Английски и техните преводи на Български
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Rare inherited conditions.
Wilson's disease is a rare inherited disorder.
Have a rare inherited eye disease(retinitis pigmentosa).
Galactosemia, which means“galactose in the blood”, is a rare inherited condition.
This rare inherited disorder occurs in 1 in 80,000 people.
Хората също превеждат
Myozyme is used to treat patients who have Pompe disease, a rare inherited disorder.
If you have a rare inherited blood disorder called porphyria.
Replagal is used to treat patients who have Fabry disease, a rare inherited disorder.
You have certain rare inherited eye disease(such as retinitis pigmentosa).
Factor I deficiency is a collective term for several rare inherited fibrinogen deficiencies.
If you have certain rare inherited eye diseases(such as retinitis pigmentosa);
Wilzin is indicated in the treatment of Wilson's disease,which is a rare inherited defect in copper excretion.
Your child has a rare inherited illness which affects their immune system called Severe Combined Immunodeficiency(SCID).
Ruconest is to be used by adults and adolescents with a rare inherited blood disorder, called Hereditary Angioedema(HAE).
Cystinosis is a rare inherited disorder where cystine builds up within body cells, preventing them from working correctly.
The main focus of research activities is on the molecular genetics and biology of human diseases such as cancer,autoimmunity, and rare inherited neurodevelopmental phenotypes.
Niemann Pick type C disease is a rare inherited disease that affects the way the body handles fats.
Rare inherited diseases(including the aforementioned colour blindness) are usually caused when two copies of a gene are passed on by the mother and the father.
Wechsler is already working on targeting lysosomal storage diseases, rare inherited conditions in which people lack enzymes for breaking down parts of a cell.
ADA-SCID is a rare inherited condition in which there is a change(mutation) in the gene needed to make an enzyme called adenosine deaminase(ADA).
Familial benign hypercalcemia, a rare inherited disorder, is sometimes called blue diaper syndrome because children with the disorder have blue urine.
Cystinosis is a rare inherited disease caused by the accumulation of a substance called cystine, which forms crystals inside cells, particularly cells in the cornea and kidneys.
Acrodermatitis enteropathy- is a rare inherited disorder during childhood as a result of inability to absorb adequate amounts of zinc in the diet.
Gaucher disease is a rare inherited disorder, in which people do not have enough of an enzyme called glucocerebrosidase, which normally breaks down a fat called glucocerebroside.
The researchers looked at 10 patients with a rare inherited disease called Leber's congenital amaurosis Type 2(LCA2), which causes the retinas to degenerate slowly.
This is a rare inherited disorder where patients have various mutations(changes) in the gene responsible for the production of an enzyme called alpha-galactosidase A, which normally breaks down a fatty substance called globotriaosylceramide(GL-3).
Wilson's disease is a rare inherited disorder where patients lack an enzyme that is needed to eliminate the copper contained in food from the body.
The porphyrias are a group of rare inherited or acquired disorders of certain enzymes that normally participate in the production of porphyrins and haem.
Seckel syndrome is an extremely rare inherited disorder characterized by growth delays prior to birth(intrauterine growth retardation) resulting in low birth weight.
Malignant hyperthermia- A rare inherited condition in which a person develops a very high fever when given general anesthetics or muscle relaxants in preparation for surgery.