| 单词 | Deficiency Disease,Galactose 1 Phosphate Uridyl Transferase |
| 释义 | Deficiency Disease,Galactose 1 Phosphate Uridyl Transferase《英文msh词典》Deficiency Disease,Galactose 1 Phosphate Uridyl Transferase [入口词] Deficiency Disease,Galactose 1 Phosphate Uridyl Transferase [主题词] Galactosemias [英文释义] A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency,and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (OVARIAN FAILURE,PREMATURE); and cataracts. (From Menkes,Textbook of Child Neurology,5th ed,pp61-3) |
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