Globoid Cell Leukodystrophy (Krabbe Disease): An Update

AA Maghazachi - ImmunoTargets and Therapy, 2023 - Taylor & Francis
Globoid cell leukodystrophy or Krabbe is a disease that affects children as well as adults
who have mutations in the gene encoding the enzyme galactosylceramidase …

Zebra-Sphinx: modeling sphingolipidoses in zebrafish

L Mignani, J Guerra, M Corli, D Capoferri… - International Journal of …, 2023 - mdpi.com
Sphingolipidoses are inborn errors of metabolism due to the pathogenic mutation of genes
that encode for lysosomal enzymes, transporters, or enzyme cofactors that participate in the …

From pathological mechanisms in Krabbe disease to cutting‐edge therapy: A comprehensive review

I Ketata, E Ellouz - Neuropathology, 2024 - Wiley Online Library
Since its initial documentation by Knud Krabbe in 1916, numerous studies have scrutinized
the characteristics of Krabbe disease (KD) until the identification of the mutation in the GALC …

A Multiomic Study of Epigenetic Dysregulation in Chronic Myelomonocytic Leukaemia

HM Bossenbroek - 2023 - search.proquest.com
Chronic myelomonocytic leukaemia (CMML) is a clonal haematological neoplasm
characterised by persistent monocytosis and dysplasia in at least one myeloid lineage. It can …