Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation

Overview of attention for article published in Journal of Human Genetics, April 2006

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

Article in Neurological Sciences (March 2023)

Lysosomal Storage Dysfunction, a Germline Variants Affecting Pancreatic Ductal Adenocarcinoma Development and Progression

Preprint in medRxiv (February 2023)

From Lysosomal Storage Disorders to Parkinson’s Disease – Challenges and Opportunities

Article in Journal of Molecular Biology (December 2022)