ライフサイエンスコーパス: galactocerebrosidase

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1 bsent functional activity of the enzyme beta-galactocerebrosidase.

2 l single point mutations within the gene for galactocerebrosidase.

3 th with marked deficiency of the enzyme beta-galactocerebrosidase.

4 storage disease characterized by the loss of galactocerebrosidase.

5 ral novel mutations that result in deficient galactocerebrosidase activity were also identified in th

6 plantation can provide a source of leukocyte galactocerebrosidase and thereby prevent the decline of

7 data that had indicated the existence of two galactocerebrosidase forms with different catalytic acti

8 rage disease (LSD) caused by a deficiency in galactocerebrosidase (GALC) activity.

9 rage disease caused by genetic deficiency of galactocerebrosidase (GALC) activity.

10 al disorder resulting from the deficiency of galactocerebrosidase (GALC) activity.

11 sive disorder resulting from a deficiency of galactocerebrosidase (GALC) activity.

12 Krabbe disease) by his severe deficiency of galactocerebrosidase (GALC) activity.

13 eral nervous system caused by the absence of galactocerebrosidase (GALC) activity.

14 Deficiencies in the enzyme beta-galactocerebrosidase (GALC) cause Krabbe disease, a deva

15 l storage disease caused by a severe loss of galactocerebrosidase (GALC) enzymatic activity.

16 Variants in the galactocerebrosidase (GALC) gene, for example, were iden

17 caused by loss-of-function mutations in the galactocerebrosidase (GALC) gene.

18 ic leukodystrophy caused by mutations in the galactocerebrosidase (GALC) gene.

19 tion that is caused by defects in the enzyme galactocerebrosidase (GALC).

20 ed by the deficiency of the lysosomal enzyme galactocerebrosidase (GALC).

21 s are clustered in the first 10 exons of the galactocerebrosidase gene and therefore affect the 50-kD

22 We have analyzed the galactocerebrosidase gene in 17 patients (nine families)

23 Measurement of leukocyte galactocerebrosidase levels, neurologic examinations, ne

24 ietic cells with restoration of normal blood galactocerebrosidase levels.

25 followed by restoration of normal leukocyte galactocerebrosidase levels.

26 Galactocerebrosidase loss leads to the accumulation of p

27 herited disorder caused by the deficiency of galactocerebrosidase, the lysosomal enzyme responsible f

28 leukodystrophy is caused by a deficiency of galactocerebrosidase, which results in progressive centr

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