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MEDICAL / Genetics
Acute intermittent porphyria, porphyria variegata, and to a lesser degree hereditary coproporphyr...
Antenatal clinics: care and examinations
Tasks of antenatal clinics are listed below. Provide the expectant mother with information ...
The classification is based on the examination of the whole surgical specimen and the lymph nodes...
Cystic fibrosis (CF)
Cystic fibrosis (CF) is a hereditary metabolic disease. Its main symptoms include progressive pul...
Health problems that are characteristic to Down syndrome (DS) should be identified early (particu...
Every doctor will need at some stage to answer questions relating to the hereditary nature of dis...
This common disorder presenting as asymptomatic jaundice should be identified and unnecessary exa...
Hereditary angioedema (HAE) and ACE inhibitor-induced angioedema
Consider the possibility of hereditary angioedema (HAE) in the differential diagnosis of anaphyla...
The majority of patients with myopathies have an inherited disease. Symptoms alone are not usuall...
Inherited thrombophilia increases the likelihood of venous thrombosis. The highest risk is associ...
Symmetrical disease of (motor and sensory) peripheral nerves and/or the autonomic nerve system Th...
Screening for foetal chromosomal abnormalities
Each pregnancy carries a small risk of foetal chromosomal abnormalities. The incidence of trisomy...
Thalassaemias (a deficiency of globin chains) must be differentiated from other haemolytic diseas...
Tic disorders in childhood
Tic disorder means sudden, repeated and unintentional convulsion-like twitches or vocal symptoms ...
Treating psychological problems in persons with intellectual disability (ID) in primary health care
The essential goals are to recognize conditions requiring a more specific assessment of a possibl...
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