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

[Genetic analysis of a case with Adult-onset globoid cell leukodystrophy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2024

Liang Wenwen, Zhu Zhou, Fang Yongkang

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic etiology of a patient with Adult-onset globoid cell leukodystrophy/Krabbe disease (KD). METHODS: A patient who was admitted to the Tongji Hospital Affiliated to Tongji Medical College, Huazhong University of Science and Technology on February 15, 2022 due to exacerbation of right leg weakness for over 4 years was selected as the study subject. Clinical data...

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Mothers

Share to Mutation

Share to Siblings

Source

Identifiers

PMID: 38311562
DOI: 10.3760/cma.j.cn511374-20221012-00683

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Genetic analysis of a case with Adult-onset globoid cell leukodystrophy].PMID 38311562Read ↗

Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years.Semantic proximity Read ↗

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

A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.Semantic proximity Read ↗

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

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.Semantic proximity Read ↗

Adult-onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report.Semantic proximity Read ↗

Incidental magnetic resonance imaging findings leading to an unusual diagnosis: Adult onset Krabbe disease.Semantic proximity Read ↗

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.Semantic proximity Read ↗

A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review.Semantic proximity Read ↗

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

A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report.Semantic proximity Read ↗

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.Semantic proximity Read ↗

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