英语词汇“Phenylketonurias,Atypical”的意思、用法、释义、翻译、读音、例句、短语、词组-英汉翻译词典

《英文msh词典》Phenylketonurias,Atypical

[入口词] Phenylketonurias,Atypical

[主题词] Phenylketonurias

[英文释义] A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e.,atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al.,Principles of Neurology,6th ed,p952).

单词	Phenylketonurias,Atypical
释义	Phenylketonurias,Atypical 《英文msh词典》Phenylketonurias,Atypical [入口词] Phenylketonurias,Atypical [主题词] Phenylketonurias [英文释义] A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e.,atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al.,Principles of Neurology,6th ed,p952).
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