EPISODE · Jan 13, 2026 · 5 MIN
Shortcast: A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs
from JIMD Podcasts · host Journal of Inherited Metabolic Disease
Merve Yoldaş Çelik reviews pediatric cell trafficking disorders, a genetically diverse group that can mimic mitochondrial, lysosomal, and glycosylation disease. Using a 14-patient case series (including two novel variants), she highlights shared multisystem patterns and practical gene-specific clues to support a mechanism-based diagnostic approach. A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs Merve Yoldaş Çelik, et al https://doi.org/10.1002/jmd2.70053
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Shortcast: A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs
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