Articles tagged with Krabbe disease
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Krabbe Disease
Krabbe disease, also known as globoid cell leukodystrophy, is a rare autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems.
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Biomarkers for Lysosomal Storage Disorders
Interested in the latest innovations in metabolic disease diagnostics and assessing the effects of therapy? Do you want to learn more about biochemical genetic testing at CENTOGENE? Join this webinar to learn more about novel biomarkers for lysosomal storage disorders (LSDs).
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Diagnostic Difficulties in Krabbe Disease: A Report of Two Cases and Review of Literature
Globoid cell leukodystrophy (GLD, also known as Krabbe disease), whose pathophysiology is still not completely elucidated, is an inherited, metabolic, and neurodegenerative disease, caused by the deficiency of β-galactocerebrosidase (GALC) or in very rare cases by lack of active saposin A. We…
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BioKrabbe – Biomarker for Krabbe Disease
The goal of this study is to develop new biochemical markers from the plasma of affected patients, helping to benefit the patient with early diagnosis and thereby with earlier treatment.