Archives: Conditions A-Z
Fanconi anemia
Inherited bone marrow failure with congenital anomalies and high cancer risk.
ავტორი:
Congenital adrenal hyperplasia
Cortisol synthesis defect with androgen excess and salt-wasting in classic forms.
ავტორი:
Cystinosis
A lysosomal transport defect; cysteamine depletes intracellular cystine and slows organ damage.
ავტორი:
Glycogen storage disease type I
Glucose-6-phosphatase deficiency with severe fasting hypoglycemia, hepatomegaly and lactic acidosis.
ავტორი:
Galactosemia
An inborn error of galactose metabolism detected on newborn screening; lifelong galactose restriction prevents acute crises.
ავტორი:
Dravet syndrome
A severe developmental and epileptic encephalopathy; several targeted antiseizure medicines are approved and certain sodium-channel blockers are avoided.
ავტორი:
Creutzfeldt-Jakob disease
Rapidly progressive prion neurodegeneration with dementia, myoclonus and ataxia.
ავტორი:
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