Genetic Disorders

Phenylketonuria: symptoms, diagnosis, treatment
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Phenylketonuria: symptoms, diagnosis, treatment

Phenylketonuria - the most common disorder of amino acid metabolism. On average, phenylketonuria susceptible 1 of 8,000 people.Underlying diseases ...

Cystic fibrosis: symptoms, diagnosis, treatment
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Cystic fibrosis: symptoms, diagnosis, treatment

Cystic fibrosis - a genetic disease caused by mutations in the gene for cystic fibrosis transmembrane regulator.Characterized by impaired secretion...

Neurofibromatosis: causes, symptoms, treatment
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Neurofibromatosis: causes, symptoms, treatment

Neurofibromatosis - a group of inherited diseases with characteristic changes in the skin, the nervous system, often in combination with abnormalit...

Down Syndrome: Causes, Risks, signs
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Down Syndrome: Causes, Risks, signs

Down's syndrome - a genetic abnormality, which is due to the tripling of the 21st chromosome. If a person has normal 23 pairs, or 46 chromosomes is...