英语词汇“congenital systemic glutamine deficiency”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

单词	congenital systemic glutamine deficiency
释义	congenital systemic glutamine deficiency congenital systemic glutamine deficiency A rare developmental disorder (OMIM:610015) characterised by severe brain malformation, multi-organ failure and neonatal death. Glutamine is largely absent from affected infants’ serum, urine and cerebrospinal fluid. Molecular pathology Defects in GLUL cause congenital glutamine deficiency.
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