Research & Literature

Galactosylsphingosine (psychosine)-induced demyelination is attenuated by sphingosine 1-phosphate signalling.

O'Sullivan C, Dev KK

Journal of cell science 2015; (128(21)):3878-87 doi:10.1242/jcs.169342.

Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation.

Tomás J, Durães J, Lacerda L, Macário MC

BMJ case reports 2015; (2015()).

Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD).

Gucev Z, Tasic V

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki) 2015; (36(3)):99-101.

Psychosine, a marker of Krabbe phenotype and treatment effect.

Escolar ML, Kiely BT, Shawgo E, et al.

Molecular genetics and metabolism 2017; (121(3)):271-278 doi:10.1016/j.ymgme.2017.05.015.

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.

Kwon JM, Matern D, Kurtzberg J, et al.

Orphanet journal of rare diseases 2018; (13(1)):30 doi:10.1186/s13023-018-0766-x.

Enlargement of the brachial plexus on magnetic resonance imaging: a novel finding in adult-onset Krabbe disease.

Hiyama T, Masumoto T, Hara T, et al.

BJR case reports 2016; (2(3)):20150213 doi:10.1259/bjrcr.20150213.

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.

Beltran-Quintero ML, Bascou NA, Poe MD, et al.

Orphanet journal of rare diseases 2019; (14(1)):46 doi:10.1186/s13023-019-1018-4.

Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases.

Komatsuzaki S, Zielonka M, Mountford WK, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(10)):2208-2215 doi:10.1038/s41436-019-0480-7.

Genotype and phenotype classification of 29 patients affected by Krabbe disease.

Madsen AMH, Wibrand F, Lund AM, et al.

JIMD reports 2019; (46(1)):35-45 doi:10.1002/jmd2.12007.

Rare Saposin A deficiency: Novel variant and psychosine analysis.

Calderwood L, Wenger DA, Matern D, et al.

Molecular genetics and metabolism 2020; (129(2)):161-164 doi:10.1016/j.ymgme.2019.08.001.

Cerebrospinal fluid and serum glycosphingolipid biomarkers in canine globoid cell leukodystrophy (Krabbe Disease).

Corado CR, Pinkstaff J, Jiang X, et al.

Molecular and cellular neurosciences 2020; (102()):103451 doi:10.1016/j.mcn.2019.103451.

Teaching NeuroImages: Infantile-onset Krabbe disease with tigroid appearance of the white matter.

Andriescu EC, Russo SN, Pérez CA

Neurology 2020; (94(18)):e1964-e1965 doi:10.1212/WNL.0000000000009380.

Macrophages Expressing GALC Improve Peripheral Krabbe Disease by a Mechanism Independent of Cross-Correction.

Weinstock NI, Shin D, Dhimal N, et al.

Neuron 2020; (107(1)):65-81.e9 doi:10.1016/j.neuron.2020.03.031.

Unexpected Synergy: Macrophages and Schwann Cells Modulate Pathology in a Newborn Disease through a Shared Substrate.

Kratimenos P, Gallo V

Neuron 2020; (107(1)):1-3 doi:10.1016/j.neuron.2020.05.025.

Natural history of Krabbe disease - a nationwide study in Germany using clinical and MRI data.

Krieg SI, Krägeloh-Mann I, Groeschel S, et al.

Orphanet journal of rare diseases 2020; (15(1)):243 doi:10.1186/s13023-020-01489-3.

Long-term neurodevelopmental outcomes of hematopoietic stem cell transplantation for late-infantile Krabbe disease.

Yoon IC, Bascou NA, Poe MD, et al.

Blood 2021; (137(13)):1719-1730 doi:10.1182/blood.2020005477.

Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature.

Bascou NA, Beltran-Quintero ML, Escolar ML

Frontiers in neurology 2020; (11()):563724 doi:10.3389/fneur.2020.563724.

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

Liao HC, Jack R, Scott AI

Clinica chimica acta; international journal of clinical chemistry 2021; (519()):300-305 doi:10.1016/j.cca.2021.05.010.

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

Basheeruddin K, Shao R, Balster F, et al.

International journal of neonatal screening 2021; (7(2)) doi:10.3390/ijns7020024.

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

Peterson L, Siemon A, Olewiler L, et al.

Journal of genetic counseling 2022; (31(1)):252-260 doi:10.1002/jgc4.1480.

Hospitalization Burden and Incidence of Krabbe Disease.

Ghabash G, Wilkes J, Barney BJ, Bonkowsky JL

Journal of child neurology 2022; (37(1)):12-19 doi:10.1177/08830738211027717.

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

Nasir G, Chopra R, Elwood F, Ahmed SS

Frontiers in medicine 2021; (8()):760236 doi:10.3389/fmed.2021.760236.

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

Ghabash G, Wilkes J, Bonkowsky JL

Frontiers in pediatrics 2021; (9()):764626 doi:10.3389/fped.2021.764626.

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

Page KM, Ream MA, Rangarajan HG, et al.

Blood advances 2022; (6(9)):2947-2956 doi:10.1182/bloodadvances.2021006094.

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

Paiva ARB, Fonseca Neto RE, Afonso CL, et al.

European journal of neurology 2022; (29(6)):1859-1862 doi:10.1111/ene.15298.

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

Aslanger AD, Şengenç E, Kölemen AB, et al.

The Turkish journal of pediatrics 2022; (64(1)):69-78.

Efficacy and Safety of a Krabbe Disease Gene Therapy.

Hordeaux J, Jeffrey BA, Jian J, et al.

Human gene therapy 2022; (33(9-10)):499-517 doi:10.1089/hum.2021.245.

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

Nicita F, Stregapede F, Deodato F, et al.

European journal of human genetics : EJHG 2022; (30(8)):984-988 doi:10.1038/s41431-022-01111-z.

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

Mitsutake A, Matsukawa T, Iwata A, et al.

Brain & development 2023; (45(7)):408-412 doi:10.1016/j.braindev.2023.04.001.

Overview of Neuro-Ophthalmic Findings in Leukodystrophies.

Bettinger CM, Dulz S, Atiskova Y, et al.

Journal of clinical medicine 2024; (13(17)) doi:10.3390/jcm13175114.

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

Evans LMP, Gawron J, Sim FJ, et al.

PloS one 2024; (19(12)):e0314858 doi:10.1371/journal.pone.0314858.

Experiences of Patients and Families Living with Krabbe Disease.

Koto Y, Yamashita W, Kitamura K, Sakai N

Journal of patient experience 2025; (12()):23743735241309470 doi:10.1177/23743735241309470.

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

Gnanakumar A, Aljaberi R, Laney DA, et al.

Journal of the peripheral nervous system : JPNS 2025; (30(3)):e70040 doi:10.1111/jns.70040.

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

Almudhry M, Prasad C, Tay KY, et al.

Molecular genetics and metabolism reports 2025; (44()):101242 doi:10.1016/j.ymgmr.2025.101242.

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

Honkawa Y, Kuwagaki S, Hayashida H, et al.

Rinsho shinkeigaku = Clinical neurology 2025; (65(11)):808-812 doi:10.5692/clinicalneurol.cn-002148.

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

Yan X, Jiang J, Xie J, et al.

Neurobiology of disease 2025; (217()):107202 doi:10.1016/j.nbd.2025.107202.

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

Ashraf A, Ashraf H, Fatima M, et al.

Annals of medicine and surgery (2012) 2025; (87(12)):9185-9186 doi:10.1097/MS9.0000000000004240.

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

Lin DS, Ho CS, Huang YW, et al.

Cells 2025; (14(24)) doi:10.3390/cells14241942.

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

Bascou NA, Jackson S, Engel P, et al.

Orphanet journal of rare diseases 2026; (21(1)):36 doi:10.1186/s13023-025-04176-3.