maple syrup urine disease
英 [ˈmeipl ˈsirəp ˈjuərin diˈzi:z] 美 [ˈmepəl ˈsɪrəp ˈjʊrɪn dɪˈziz]

释义

槭糖尿病；

英英释义

maple syrup urine disease

• n.an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood

  同义词：branched chain ketoaciduria

权威例句

Maple Syrup Urine Disease
Maple-syrup-urine disease.
Maple Syrup Urine Disease
Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.
Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry
MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation.
Maple syrup urine disease, with particular reference to dietotherapy.
Investigation of the metabolic pattern in maple syrup urine disease by means of glass capillary gas chromatography and mass spectrom...
Intellectual performance of children with maple syrup urine disease
Maple syrup urine disease: interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associat...
Glutamate and gamma-aminobutyric acid neurotransmitter systems in the acute phase of maple syrup urine disease and citrullinemia enc...
Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease
Classical maple syrup urine disease and brain development: principles of management and formula design.