Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Globoid cell leukodystrophy (Krabbe's disease): update.

Journal of child neurology - 1 Sept 2003

Suzuki Kunihiko

Abstract excerpt

The classic globoid cell leukodystrophy (Krabbe's disease) is caused by genetic defects in a lysosomal enzyme, galactosylceramidase. It is one of the two classic genetic leukodystrophies, together with metachromatic leukodystrophy. The mode of inheritance is autosomal recessive. Typically, the disease occurs among infants and takes a rapidly fatal course, but rarer late-onset forms also exist. Clinical...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Galactosylceramidase
Share to Leukodystrophy, Globoid Cell
Share to Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Phenotype

Source

Identifiers

PMID: 14572137
DOI: 10.1177/08830738030180090201

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Globoid cell leukodystrophy (Krabbe's disease): update.PMID 14572137Read ↗

Insights into the Pathogenesis and Treatment of Krabbe Disease.Semantic proximity Read ↗

Globoid Cell Leukodystrophy (Krabbe Disease): An UpdateSemantic proximity Read ↗

Krabbe disease: New hope for an old diseaseSemantic proximity Read ↗

Biochemical, cell biological, pathological, and therapeutic aspects of K rabbe's diseaseSemantic proximity Read ↗

Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment ApproachesSemantic proximity Read ↗

[Krabbe disease (globoid cell leukodystrophy)].Semantic proximity Read ↗

GALC mutations in Chinese patients with late-onset Krabbe disease: a case reportSemantic proximity Read ↗

Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.Semantic proximity Read ↗

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease.Semantic proximity Read ↗

Mechanism-Based Combination Treatment Dramatically Increases Therapeutic Efficacy in Murine Globoid Cell LeukodystrophySemantic proximity Read ↗

Murine, canine and non-human primate models of Krabbe disease.Semantic proximity Read ↗

Human iPSC-based neurodevelopmental models of globoid cell leukodystrophy uncover patient- and cell type-specific disease phenotypesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.