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1 rowth, low molecular weight proteinuria, and aminoaciduria.
2 at include low molecular weight proteinuria, aminoaciduria and glycosuria, together with rickets in s
5 y fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron me
7 c BCS1L variants include growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidos
8 phosphate synthase (CPS), as well as dibasic aminoacidurias hyperammonemia-hyperornithinemia-homocitr
11 i-like syndrome of glucosuria, phosphaturia, aminoaciduria, low molecular weight proteinuria, and alb
13 the first patient presented as an adult with aminoaciduria, seizures, bilateral sensorineural deafnes
14 x of Slc7a7Lbu/Lbu mice, which combined with aminoaciduria suggests proximal tubular dysfunction.
15 ar weight (<70 kDa) proteinuria, generalized aminoaciduria that was more pronounced for neutral and p
18 en on the same day showed significantly more aminoaciduria when glucosuria was present compared with
19 The HNF-1alpha patients had a generalized aminoaciduria with elevated levels of 14 of 16 amino aci