poruchy metabolizmu aminokyselín, kongenitálne aminoacidopatie vrodené aminoacidopatie kongenitálne
English X references
Amino Acidopathies, Congenital
Scope note in English
Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
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