Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review.

Sphingolipid-neutralizing molecular therapy reduces psychosine cytotoxicity in Krabbe disease.

Very late-onset Krabbe disease with concomitant dementia: case description and a critical review of the literature.

Brachial plexopathy in juvenile-onset Krabbe disease: A rare case.

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

Long-term neurological outcome after hematopoietic stem cell transplant in juvenile Krabbe disease.

A case report of integrating Chinese and Western medicine: A new era in the treatment of late-onset Krabbe disease.

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

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

Impaired docking and recycling of synaptic vesicles in inherited lysosomal sphingolipidoses.

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases.

Timeliness of reporting NBS results for Krabbe disease.

Genetic and Clinical Characteristics of Chinese Adult Patients With Krabbe Disease.

Gene therapy for Krabbe disease: evidence from mouse and canine models.

CRISPR-mediated correction of GALC mutations in Krabbe disease neural models - opportunities and risks.

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

Spatial and temporal brain biodistribution of neuropathogenic sphingolipids of Krabbe disease.

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

Ceramide levels predict clinical severity in adult-onset Krabbe disease independent of extensive white matter hyperintensities.

Analyzing accessibility and suitability of online Krabbe disease resources.

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

Beyond Krabbe disease, the intriguing connection of galactocerebrosidase (GALC) with nervous system illness: A novel risk factor?

Parental psychosocial outcomes after a positive newborn screen for a lysosomal storage disorder.

Chimeric enzymes enhance treatment potential for globoid cell leukodystrophy through hematopoietic stem cell gene therapy.

Molecular Characterization of the GALC Mutation Thr112Ala Causing Krabbe Disease.

Two-tiered newborn screening for infantile Krabbe disease allows timely treatment initiation and avoids false-positive results.

Unravelling neurodegeneration with cerebral calcifications: Krabbe disease masquerading as Aicardi-Goutieres syndrome.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia mimicking adult-onset Krabbe disease.

Krabbe disease: a differential cause of the hyperdense boomerang sign.

Inherited white matter disorders in Japan: focusing on demyelinating leukodystrophy.

Outcome of two siblings with late-onset Krabbe disease following allogeneic hematopoietic stem cell transplantation: And review of literature.

Amelioration of Inflammation and Metabolic Blockage in GALC Deficient Mice After Enzyme Replacement Therapy via Extracellular Vesicles.

Investigating the Cellular Effects of GALC Dosing in Enzyme Replacement Therapy for Krabbe Disease Supports the Role of Nanomedicine.

Peripheral Neuropathy as an Early Marker in Newborn-Screened Krabbe Disease: The Value of Pre-Confirmatory Neurophysiological Testing.

Clinical application of expanded carrier screening based on next-generation sequencing in the Chinese population.

Secondary accumulation of lyso-platelet activating factors in lysosomal storage diseases.

Neuroglial Pathophysiology of Leukodystrophies.

Quantification profiles of enzyme activity, secretion, and psychosine levels of Krabbe disease galactosylceramidase missense variants.

Microglia replacement: from monocytic origin to therapy.

High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.

Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China.

Direct microglia replacement reveals pathologic and therapeutic contributions of brain macrophages to a monogenic neurological disease.

Brain accumulation of lactosylceramide characterizes GALC deficiency in a zebrafish model of Krabbe disease.

Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China.

Sphingolipidoses: expanding the spectrum of α-synucleinopathies.

Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy.

STING mediates lysosomal quality control and recovery through its proton channel function and TFEB activation in lysosomal storage disorders.

Neuroglia in leukodystrophies.

Evidence and Recommendation for Infantile Krabbe Disease Newborn Screening.

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease.

Newborn screening and rapid genomic diagnosis of neuromuscular diseases.

Late-Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review.

Experiences of Patients and Families Living with Krabbe Disease.

Unifying biology of neurodegeneration in lysosomal storage diseases.

Ablation of lipocalin-2 reduces neuroinflammation in a mouse model of Krabbe disease.

A lipid nanoparticle-based oligodendrocyte-specific mRNA therapy.

Human iPSC-derived myelinating organoids and globoid cells to study Krabbe disease.

Infantile Krabbe disease (0-12 months), progression, and recommended endpoints for clinical trials.

Expression study of Krabbe Disease GALC missense variants - Insights from quantification profiles of residual enzyme activity, secretion and psychosine levels.

Childhood-inherited white matter disorders with calcification.

Hematopoietic stem cell transplantation in leukodystrophies.

Lysosomal storage diseases.

Overview of Neuro-Ophthalmic Findings in Leukodystrophies.

Exploring the globoid cell leukodystrophy protein network and therapeutic interventions.

Dietary Supplementation with n-3 Polyunsaturated Fatty Acids Delays the Phenotypic Manifestation of Krabbe Disease and Partially Restores Lipid Mediator Production in the Brain-Study in a Mouse Model of the Disease.

Triggered saccadic oscillations: case series and review of the literature.

Late-onset Krabbe disease presenting as spastic paraplegia - implications of GCase and CTSB/D.

Promyelinating drugs ameliorate oligodendrocyte pathologies in a mouse model of Krabbe disease.

Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature.

Newborn Screening for 6 Lysosomal Storage Disorders in China.

Perinatal loss of galactosylceramidase in both oligodendrocytes and microglia is crucial for the pathogenesis of Krabbe disease in mice.

Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.

Impact of an irreversible β-galactosylceramidase inhibitor on the lipid profile of zebrafish embryos.

The Effect of Donepezil Hydrochloride in the Twitcher Mouse Model of Krabbe Disease.

Genetic and Functional Analyses of Patients with Marked Hypo-High-Density Lipoprotein Cholesterolemia.

Experiences of patients with metachromatic leukodystrophy, adrenoleukodystrophy, or Krabbe disease and the experiences of their family members: a qualitative systematic review.

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

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.

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

Chronic Rapamycin administration via drinking water mitigates the pathological phenotype in a Krabbe disease mouse model through autophagy activation.

Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements.

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

Progress in leukodystrophies with zebrafish.

Newborn Screening for Krabbe Disease and Identification of Minority Patients.

Combination HSCT and intravenous AAV-mediated gene therapy in a canine model proves pivotal for translation of Krabbe disease therapy.

Globoid Cell Leukodystrophy (Krabbe Disease): An Update.

Nanomedicines to treat rare neurological disorders: The case of Krabbe disease.

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report.

Untargeted Lipidomic Approach for Studying Different Nervous System Tissues of the Murine Model of Krabbe Disease.

The development of a broad-spectrum retaining β-exo-galactosidase activity-based probe.

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.

Brain Targeted AAV1-GALC Gene Therapy Reduces Psychosine and Extends Lifespan in a Mouse Model of Krabbe Disease.

Allogeneic Cell Therapy Applications in Neonates: A Systematic Review.

Novel genetic variant associated with globoid cell leukodystrophy in a family of mixed breed dogs.

Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.

HDAC-6 inhibition ameliorates the early neuropathology in a mouse model of Krabbe disease.

A novel variant of GALC in a familial case of Krabbe disease: Insights from structural bioinformatics and molecular dynamics simulation.

The Krabbe Conundrum-How Are Benefits and Harms Weighed to Determine the Net Benefit of Screening?

Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.

Genetic ablation of Saposin-D in Krabbe disease eliminates psychosine accumulation but does not significantly improve demyelination.

The Effects of Antipsychotics in Experimental Models of Krabbe Disease.

The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study.

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.

Molecular genetic screening of full-term small for gestational age.

rAAV2-Mediated Restoration of GALC in Neural Stem Cells from Krabbe Patient-Derived iPSCs.

Favorable outcome of hematopoietic stem cell transplantation in late-onset Krabbe disease.

Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.

Rapamycin Alleviates Protein Aggregates, Reduces Neuroinflammation, and Rescues Demyelination in Globoid Cell Leukodystrophy.

Altered plasma membrane abundance of the sulfatide-binding protein NF155 links glycosphingolipid imbalances to demyelination.

Impaired Autophagy in Krabbe Disease: The Role of BCL2 and Beclin-1 Phosphorylation.

Mechanotransduction Impairment in Primary Fibroblast Model of Krabbe Disease.

Combined saposin deficiency: A rare occurrence.

A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family.

In silico modelling of the function of disease-related CAZymes.

Gene Therapy of Sphingolipid Metabolic Disorders.

Reliable and Fast Genotyping Protocol for Galactosylceramidase (Galc) in the Twitcher (Twi) Mouse.

Upregulation of non-canonical and canonical inflammasome genes associates with pathological features in Krabbe disease and related disorders.

Early recognition of patients with leukodystrophies.

Experiences of patients and their family members with metachromatic leukodystrophy, adrenoleukodystrophy, and Krabbe disease: a qualitative systematic review protocol.

CTCF loss induces giant lamellar bodies in Purkinje cell dendrites.

A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease.

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.

Neurodegenerative Disorder Risk in Krabbe Disease Carriers.

Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report.

The development and validation of sensitive LC-MS/MS method for quantitative bioanalysis of carmofur in mouse plasma and its application to pharmacokinetic study.

Newborn Screening Is on a Collision Course with Public Health Ethics.

Krabbe's disease; A rare case report.

Production and characterization of human induced pluripotent stem cell line (PUMCi002-A) from a Krabbe patient related control to study disease mechanisms associated with GALC mutation.

An autopsy case report of adult-onset Krabbe disease: Comparison with an infantile-onset case.

Preclinical studies in Krabbe disease: A model for the investigation of novel combination therapies for lysosomal storage diseases.

A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy.

Current Understanding on the Genetic Basis of Key Metabolic Disorders: A Review.

Plasma Lysosphingolipid Biomarker Measurement by Liquid Chromatography Tandem Mass Spectrometry.

Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease.

Adult-onset Krabbe disease presenting as isolated sensorimotor demyelinating polyneuropathy: A case report.

Why must the debate continue on Krabbe disease newborn screening?

Versatile use of Carmofur: A comprehensive review of its chemistry and pharmacology.

β-Galactosylceramidase Deficiency Causes Upregulation of Long Pentraxin-3 in the Central Nervous System of Krabbe Patients and Twitcher Mice.

Improved Brain Pathology and Progressive Peripheral Neuropathy in a 15 Year Old Survivor of Infantile Krabbe Disease Treated With Umbilical Cord Transplantation.

An Overview of PDE4 Inhibitors in Clinical Trials: 2010 to Early 2022.

Human iPSC-derived astrocytes generated from donors with globoid cell leukodystrophy display phenotypes associated with disease.

Making Decisions About Krabbe Disease Newborn Screening.

Measuring Molecular Diffusion in Dynamic Subcellular Nanostructures by Fast Raster Image Correlation Spectroscopy and 3D Orbital Tracking.

Neurons contribute to pathology in a mouse model of Krabbe disease in a cell-autonomous manner.

Neuron-specific ablation of the Krabbe disease gene galactosylceramidase in mice results in neurodegeneration.

Carrier screening for Krabbe disease in an isolated inbred community.

Hematopoietic Stem Cell Transplantation for Children With Inborn Errors of Metabolism: Single Center Experience Over Two Decades.

Label-free multiplex electrochemical immunosensor for early diagnosis of lysosomal storage disorders.

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

Highly-sensitive simultaneous quantitation of glucosylsphingosine and galactosylsphingosine in human cerebrospinal fluid by liquid chromatography/tandem mass spectrometry.

CRISPR-Cas9 Knock-In of T513M and G41S Mutations in the Murine β-Galactosyl-Ceramidase Gene Re-capitulates Early-Onset and Adult-Onset Forms of Krabbe Disease.

Evidence of seeding capacity of α-synuclein assemblies in infantile Krabbe disease.

"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.

Rare Diseases in Glycosphingolipid Metabolism.

Cut-off values of neonatal lysosomal storage disease-related enzymes detected by tandem mass spectrometry.

Establishment of Cutoff Values for Newborn Screening of Six Lysosomal Storage Disorders by Tandem Mass Spectrometry.

Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders.

Efficacy and Safety of a Krabbe Disease Gene Therapy.

The Pathogenic Sphingolipid Psychosine is Secreted in Extracellular Vesicles in the Brain of a Mouse Model of Krabbe Disease.

A novel brain-penetrant oral UGT8 inhibitor decreases in vivo galactosphingolipid biosynthesis in murine Krabbe disease.

Clinical and molecular findings in 6 Turkish cases with Krabbe disease.

Galactocerebrosidase deficiency induces an increase in lactosylceramide content: A new hallmark of Krabbe disease?

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

Substrate Reduction Therapy for Krabbe Disease: Exploring the Repurposing of the Antibiotic D-Cycloserine.

Krabbe disease: A personal perspective and hypothesis.

Gene therapy offers new hope for children with metachromatic leukodystrophy.

Benefits of newborn screening and hematopoietic cell transplant in infantile Krabbe disease.

Chronic lithium administration in a mouse model for Krabbe disease.

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

Krabbe Disease with Normal Enzyme Assay with a Pathogenic Variant in GALC Gene-A Report of Two Indian Cases.

Prion-like α-synuclein pathology in the brain of infants with Krabbe disease.

Krabbe Disease Associated With Mitochondrial Dysfunction in a Chinese Family.

National U.S. Patient and Transplant Data for Krabbe Disease.

Krabbe Disease: Prospects of Finding a Cure Using AAV Gene Therapy.

Compound heterozygous pathogenic variants in the GALC gene cause infant-onset Krabbe disease.

Mesenchymal stem cells for lysosomal storage and polyglutamine disorders: Possible shared mechanisms.

Hospitalization Burden and Incidence of Krabbe Disease.

Newborn screening of neuromuscular diseases.

Advances in the Diagnosis and Treatment of Krabbe Disease.

A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease.

Substrate reduction therapy for Krabbe disease and metachromatic leukodystrophy using a novel ceramide galactosyltransferase inhibitor.

Ethical Issues in Care and Treatment of Neuronal Ceroid Lipofuscinoses (NCL)-A Personal View.

Expression of Ripk1 and DAM genes correlates with severity and progression of Krabbe disease.

The future of newborn screening for lysosomal disorders.

Glucosylceramide and galactosylceramide, small glycosphingolipids with significant impact on health and disease.

Therapeutic Uses of Bacterial Subunit Toxins.

Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report.

Impact of Fatty Acid-Binding Proteins in α-Synuclein-Induced Mitochondrial Injury in Synucleinopathy.

Newborn Screening for Krabbe Disease-Illinois Experience: Role of Psychosine in Diagnosis of the Disease.

Galactocerebrosidase activity by liquid-chromatography tandem mass spectrometry for clinical diagnosis of Krabbe disease.

Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging.

Human iPSC-based neurodevelopmental models of globoid cell leukodystrophy uncover patient- and cell type-specific disease phenotypes.

Adult-Onset Krabbe Disease: The Importance of a Systematic Approach to Brain MRI Findings.

Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland.

Mechanisms of demyelination and neurodegeneration in globoid cell leukodystrophy.