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Author

J. Sampson

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Review Aug 2026

Clinicopathologic mismatch in young-onset parkinsonism: Multiple system atrophy masquerading as a neurotransmitter synthesis disorder.

Degeneration of dopaminergic and serotonergic nuclei in MSA can reduce CSF monoamine metabolite levels and mimic disorders of neurotransmitter biosynthesis despite correlation with tetrahydrobiopterin levels.

J. Newman, Jin Kyung Kim, Jeffrey J. Nirschl et al. · 0 citations
Open access Aug 2026

Generation of two induced pluripotent stem cell lines from Fabry disease patients carrying GLA mutations

Fabry disease is a rare genetic disease caused by loss-of-function in the GLA gene. This gene encodes the lysosomal enzyme α-galactosidase A (α-Gal A). A deficiency of α-Gal A results in the globotriaosylceramide buildup throughout the major organs, which is associated with increased mortality from cardiac disease in p...

Debarun Patra, D. Cabrera, Xiaochun Yang et al. · 0 citations

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