JIMD Podcasts
Avsnitt

Metabolic Mysteries: Progressive neurological decline, equivocal biomarkers, negative genetics!

JIMD Podcasts
Dela

A young girl develops progressive neurological symptoms and a biomarker profile pointing strongly towards a particular metabolic disorder. There’s just one problem: the genetic testing is negative.

In this Metabolic Mystery, Dr Ayca Burcu Kahraman follows the clues beyond conventional DNA testing to finally crack the case.

Can you solve it before she does?

Read the paper: https://doi.org/10.1055/a-2903-9323

Rss Apple Podcaster
Podden och tillhörande omslagsbild på den här sidan tillhör Journal of Inherited Metabolic Disease. Innehållet i podden är skapat av Journal of Inherited Metabolic Disease och inte av, eller tillsammans med, Poddtoppen.