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A study with children with 4q-syndrome and ASD or developmental delay were prescribed carnitine, CoQ10, omega-3s, and multivitamins and saw improvements

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Gerontology 58 , 337343 (2012)

The first formal human safety test appeared in early 2025: two healthy adults given intravenous infusions, no control group, measuring only whether their organ markers moved

A whole exome study of people who had relapsing leishmaniasis found that rare loss-of-function mutations in AGMO were likely the cause of the inability to clear the infection in the macrophages.[ref] BH4 Deficiency Symptoms: For people with rare genetic mutations causing severe BH4 deficiency, the symptoms can be significant and are usually present from birth

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