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Siblings with a progressive neurodegenerative condition associated with basal ganglia calcifications, retinitis pigmentosa and decreased levels of fucosidase — a new presentation?

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Journal of Inherited Metabolic Disease

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References

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Portoian-Shuhaiber, S., Gumaa, K., Hamalawi, H. et al. Siblings with a progressive neurodegenerative condition associated with basal ganglia calcifications, retinitis pigmentosa and decreased levels of fucosidase — a new presentation?. J Inherit Metab Dis 10, 397–398 (1987). https://doi.org/10.1007/BF01799983

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