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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease phenylketonuria
Symptom C0025362|mental retardation
Sentences 3
PubMedID- 22669364 Background: malformations and mental retardation in the offspring of women with phenylketonuria (pku) can be prevented by maintaining maternal blood phenylalanine (phe) within a target range (120-300 mumol/l) through a phe-restricted diet.
PubMedID- 21491106 Background: profound mental retardation in phenylketonuria (pku) can be prevented by a low phenylalanine (phe) diet.
PubMedID- 21571618 A proof of concept is the classic example of mental retardation due to inherited phenylketonuria, which can be prevented by controlling dietary exposures (van spronsen 2010).

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