Krabbe Disease Latest Advances

Find the Latest Research About Krabbe Disease

Last Updated: 06/30/2026

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Found 1272 publications

First reported case of Turner syndrome with Krabbe disease in a child: a case report.

First reported case of Turner syndrome with Krabbe disease in a child: a case report.

Journal: Translational pediatrics
Published: February 25, 2026

Molecular Dynamics Simulations of 4 GALC Variants Causing Krabbe Disease.

Molecular Dynamics Simulations of 4 GALC Variants Causing Krabbe Disease.

Journal: Computational and structural biotechnology journal
Published: February 22, 2026

Novel GALC Deletion and Paradoxical Optic Nerve Hypertrophy in Severe Infantile Krabbe Disease.

Novel GALC Deletion and Paradoxical Optic Nerve Hypertrophy in Severe Infantile Krabbe Disease.

Journal: Neuropediatrics
Published: February 04, 2026

Validating a Human Cell Model of Null Galactosylceramidase (GALC) Enzyme Activity That Recapitulates Krabbe Disease.

Validating a Human Cell Model of Null Galactosylceramidase (GALC) Enzyme Activity That Recapitulates Krabbe Disease.

Journal: Journal of inherited metabolic disease
Published: January 19, 2026

Thoracic surgery for spontaneous pneumothorax in a long-term survivor of infantile Krabbe disease: a case report.

Thoracic surgery for spontaneous pneumothorax in a long-term survivor of infantile Krabbe disease: a case report.

Journal: Journal of cardiothoracic surgery
Published: December 19, 2025

Durable Global Correction of CNS and PNS and Lifespan Rescue in Murine Globoid Cell Leukodystrophy via AAV9-Mediated Monotherapy.

Durable Global Correction of CNS and PNS and Lifespan Rescue in Murine Globoid Cell Leukodystrophy via AAV9-Mediated Monotherapy.

Journal: Cells
Published: November 18, 2025

Spatially resolved lipids in a mouse brain model of globoid cell leukodystrophy via IR-MALDESI MSI and parallel reaction monitoring MSI.

Spatially resolved lipids in a mouse brain model of globoid cell leukodystrophy via IR-MALDESI MSI and parallel reaction monitoring MSI.

Journal: Analytical and bioanalytical chemistry
Published: November 17, 2025

Abnormal Splicing of GALC Transcripts Underlies Unusual Cases of Krabbe Disease.

Abnormal Splicing of GALC Transcripts Underlies Unusual Cases of Krabbe Disease.

Journal: Biomedicines
Published: November 12, 2025

Correction: Generalized tonic-clonic seizures as the initial symptom of late-onset Krabbe disease: a Case Report.

Correction: Generalized tonic-clonic seizures as the initial symptom of late-onset Krabbe disease: a Case Report.

Journal: Frontiers in behavioral neuroscience
Published: November 06, 2025

Caregiver-reported disease burden in Krabbe disease: evaluating outcomes of hematopoietic stem cell transplantation.

Caregiver-reported disease burden in Krabbe disease: evaluating outcomes of hematopoietic stem cell transplantation.

Journal: Orphanet journal of rare diseases
Published: November 03, 2025

Advanced biomaterials for rare Krabbe disease: galactocerebrosidase scaffolds in demyelinating lesions.

Advanced biomaterials for rare Krabbe disease: galactocerebrosidase scaffolds in demyelinating lesions.

Journal: Annals of medicine and surgery (2012)
Published: October 21, 2025

A case of adult-onset Krabbe disease diagnosed by galactocerebrosidase gene mutations, presenting with an atypical phenotype

A case of adult-onset Krabbe disease diagnosed by galactocerebrosidase gene mutations, presenting with an atypical phenotype

Journal: Rinsho shinkeigaku = Clinical neurology
Published: October 19, 2025
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Last Updated: 06/30/2026