Journal of Inherited Metabolic Disease
jimd-editors.bsky.social
The Journal of Inherited Metabolic Disease (JIMD) is the official journal of the Society for the Study of Inborn Errors of Metabolism (SSIEM). Social Media maintained by James Nurse
👤 Joined on 10 November 2024
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- 10 Kas 2024, 03:30
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I know! The skills are being lost too. Throwing the baby out with the bath water?
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I had wondered about this ever since learning about this child. I do believe now it’s a single case, but I appreciate the sentiment that one in a billion happens 7 times!
Show PostWe have some patients with ADSL Deficiency that also have a diagnosis of Phelan-McDermid. It’s my opinion that one is enough.
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Preferring the kingpin. Enjoying the clever murder methods using knowledge of medications.
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