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Metabolic mysteries: Three children with neurological symptoms and coagulopathy
Manage episode 400065585 series 3001064
Innhold levert av JIMD Podcasts and Journal of Inherited Metabolic Disease. Alt podcastinnhold, inkludert episoder, grafikk og podcastbeskrivelser, lastes opp og leveres direkte av JIMD Podcasts and Journal of Inherited Metabolic Disease eller deres podcastplattformpartner. Hvis du tror at noen bruker det opphavsrettsbeskyttede verket ditt uten din tillatelse, kan du følge prosessen skissert her https://no.player.fm/legal.
Shelby Mills on behalf of the UTH Medical Genetics Team, invites you to consider three mystery cases serving to hi-light some common, and some less common, presenting features for a treatable inherited metabolic disease. Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin Shelby L. Mills, et al https://doi.org/10.1002/jmd2.12397
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