Примери за използване на Is a rare inherited на Английски и техните преводи на Български
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Gaucher disease is a rare inherited disorder.
Myotonic syndrome, which manifests itself not only in infants, butalso in older age, is a rare inherited pathology.
Wilson's disease is a rare inherited disorder.
MPS I is a rare, inherited disease, where the level of α-L-iduronidase enzyme activity is much lower than normal.
Galactosemia, which means“galactose in the blood”, is a rare inherited condition.
Gaucher disease is a rare, inherited disease that affects the way the body handles fats.
Wilzin is prescribed for the treatment of Wilson' s disease, which is a rare inherited defect in copper excretion.
Cystinosis is a rare inherited disorder where cystine builds up within body cells, preventing them from working correctly.
Wilzin is indicated in the treatment of Wilson's disease, which is a rare inherited defect in copper excretion.
Gaucher disease type 1 is a rare, inherited condition in which a substance called glucosylceramide is not effectively broken down by your body.
Hunter syndrome, which is also known as mucopolysaccharidosis II, is a rare, inherited disease that primarily affects male patients.
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).
Hunter syndrome, which is also known as mucopolysaccharidosis II, is a rare, inherited disease that primarily affects male patients.
Acrodermatitis enteropathy- is a rare inherited disorder during childhood as a result of inability to absorb adequate amounts of zinc in the diet.
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.
Niemann Pick type C disease is a rare inherited disease that affects the way the body handles fats.
Cystinosis is a rare inherited disease in which excess amounts of cystine, an amino acid naturally found in the body, build up within cells, especially in the kidneys and the eyes, damaging them.
Huntington's Disease is a rare inherited disorder that breaks down nerve cells in the brain over time, affecting a patient's behavior and movement.
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.
Hypophosphatasia is a rare inherited disease of the bones which can lead to early loss of teeth, malformed bones, frequent bone fractures, and difficulty breathing.
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.
Malignant hyperthermia is a rare, inherited condition in which a person develops a very high fever when given certain anesthetics or muscle relaxants in preparation for surgery.
Gaucher disease is a rare inherited disorder, in which people do not have enough of an enzyme called acid beta-glucosidase, which normally breaks down a fatty waste product called glucosylceramide.
Galactosemia is a rare, inherited disorder of carbohydrate metabolism that affects the body's ability to convert galactose(a sugar contained in milk, including human mother's milk) to glucose(a different type of sugar).
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).
This is a rare disease, which is inherited.
Familial amyloidosis, or ATTR, is a rare form of inherited amyloidosis.
Gaucher disease is a rare recessively inherited metabolic disorder that results from a deficiency of the lysosomal enzyme acid β-glucosidase.
Familial benign hypercalcemia, a rare inherited disorder, is sometimes called blue diaper syndrome because children with the disorder have blue urine.
At times, brown urine is related to porphyria, a rare, inherited disorder of the red blood cells.