#CitrinDeficiency
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Neonatal acute liver failure due to citrin deficiency (NALFCD) is the focus of this new #JIMDReports case from Hoi-Yin Chan et al

doi.org/10.1002/jmd2...

#NewbornScreening #CitrinDeficiency #MetabolicMedicine #RareDisease
July 28, 2026 at 4:33 AM
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🎧 New Shortcast

Raised citrulline on newborn screening but what if it points to two disorders needing very different management?

Dr Anne Kwok presents a diagnostic dilemma.

soundcloud.com/user-1090061...
🎧 Listen wherever you get the JIMD Podcast.

#CitrinDeficiency #NewbornScreening #JIMDPodcast
Shortcast: Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD)
One newborn screen. Two very different diagnoses. And treatments that pull in opposite directions. In this JIMD Reports Shortcast, Dr Anne Kwok from Hong Kong Children’s Hospital presents a newborn w
soundcloud.com
September 29, 2026 at 1:42 PM