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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 ited deficiency of the lysosomal enzyme beta-galactocerebrosidase.
5 enerative disorder caused by a deficiency in galactocerebrosidase.
6 storage disease characterized by the loss of galactocerebrosidase.
7 ral novel mutations that result in deficient galactocerebrosidase activity were also identified in th
8 plantation can provide a source of leukocyte galactocerebrosidase and thereby prevent the decline of
9 data that had indicated the existence of two galactocerebrosidase forms with different catalytic acti
10 eral nervous system caused by the absence of galactocerebrosidase (GALC) activity.
11 rage disease caused by genetic deficiency of galactocerebrosidase (GALC) activity.
12 al disorder resulting from the deficiency of galactocerebrosidase (GALC) activity.
13 sive disorder resulting from a deficiency of galactocerebrosidase (GALC) activity.
14  Krabbe disease) by his severe deficiency of galactocerebrosidase (GALC) activity.
15 rage disease (LSD) caused by a deficiency in galactocerebrosidase (GALC) activity.
16              Deficiencies in the enzyme beta-galactocerebrosidase (GALC) cause Krabbe disease, a deva
17 l storage disease caused by a severe loss of galactocerebrosidase (GALC) enzymatic activity.
18                              Variants in the galactocerebrosidase (GALC) gene, for example, were iden
19  caused by loss-of-function mutations in the galactocerebrosidase (GALC) gene.
20 ic leukodystrophy caused by mutations in the galactocerebrosidase (GALC) gene.
21 ouse model for cell-autonomous expression of galactocerebrosidase (GALC), the lysosomal enzyme defici
22 ed by the deficiency of the lysosomal enzyme galactocerebrosidase (GALC).
23 tion that is caused by defects in the enzyme galactocerebrosidase (GALC).
24 s are clustered in the first 10 exons of the galactocerebrosidase gene and therefore affect the 50-kD
25                         We have analyzed the galactocerebrosidase gene in 17 patients (nine families)
26 a sphingolipidosis caused by deficiency of B-galactocerebrosidase: it is characterized by myelin loss
27 ffected by mutations in the lysosomal enzyme galactocerebrosidase, leading to the accumulation of its
28                     Measurement of leukocyte galactocerebrosidase levels, neurologic examinations, ne
29 ietic cells with restoration of normal blood galactocerebrosidase levels.
30  followed by restoration of normal leukocyte galactocerebrosidase levels.
31                                              Galactocerebrosidase loss leads to the accumulation of p
32 herited disorder caused by the deficiency of galactocerebrosidase, the lysosomal enzyme responsible f
33  leukodystrophy is caused by a deficiency of galactocerebrosidase, which results in progressive centr