Associated Papers
Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review.
Asgari P et al.
Bmc Neurology, 2026
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience.
Margiotti K et al.
Current Issues in Molecular Biology, 2024
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Senkevich K et al.
Brain : a Journal of Neurology, 2023
36370000 (PubMed )
Supplement: awac413_supplementary_data.zip › brain-2022-00853-File010.xlsx › S4._all_rare_variants
A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report.
He Z et al.
Neurocase, 2022
Benefits of newborn screening and hematopoietic cell transplant in infantile Krabbe disease.
Page KM et al.
Blood Advances, 2022
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Guenzel AJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.
Beltran-Quintero ML et al.
Orphanet Journal of Rare Diseases, 2019
A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life.
Bascou N et al.
Orphanet Journal of Rare Diseases, 2018
Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease.
Zhao S et al.
Clinical Genetics, 2018
History, genetic, and recent advances on Krabbe disease.
Graziano AC et al.
Gene, 2015
Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature.
Szymańska K et al.
Folia Neuropathologica, 2012
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Tappino B et al.
Human Mutation, 2010
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