Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.
about
Structural snapshots illustrate the catalytic cycle of β-galactocerebrosidase, the defective enzyme in Krabbe disease.A high-throughput screening assay using Krabbe disease patient cells.Azasugar inhibitors as pharmacological chaperones for Krabbe diseaseKrabbe Disease in the Arab World.Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease.Biochemical, cell biological, pathological, and therapeutic aspects of Krabbe's disease.Treatment for Krabbe's disease: Finding the combination.Newborn screening for Krabbe disease in New York State: the first eight years' experience.
P2860
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P2860
Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.
description
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name
Krabbe leukodystrophy in a sel ...... .121G>A (p.Gly41Ser) mutation.
@en
Krabbe leukodystrophy in a sel ...... er survival linked to c.121G>A
@nl
type
label
Krabbe leukodystrophy in a sel ...... .121G>A (p.Gly41Ser) mutation.
@en
Krabbe leukodystrophy in a sel ...... er survival linked to c.121G>A
@nl
prefLabel
Krabbe leukodystrophy in a sel ...... .121G>A (p.Gly41Ser) mutation.
@en
Krabbe leukodystrophy in a sel ...... er survival linked to c.121G>A
@nl
P2093
P2860
P1433
P1476
Krabbe leukodystrophy in a sel ...... .121G>A (p.Gly41Ser) mutation.
@en
P2093
P2860
P304
P356
10.1111/J.1399-0004.2010.01572.X
P577
2010-11-11T00:00:00Z