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Creatine deficiency syndrome could be missed easily: a case report of guanidinoacetate methyltransferase deficiency presented with neurodevelopmental delay, seizures, and behavioral changes, but normal structural MRI
This guide breaks down what we know, possible risks, and safe weight loss alternatives if youre breastfeeding
Iron loading-induced aggregation and reduction of iron incorporation in heteropolymeric ferritin containing a mutant light chain that causes neurodegeneration
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Notably, vitamin B6-related metabolomic studies focus on the exploration of biomarkers for PDE, and relevant differential metabolites have been detected in biofluids (135137, 147)
