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Misery L, Stander S, Szepietowski JC, Reich A, Wallengren J, Evers AW, et al
It naturally exists in the central nervous system and can travel through the blood-brain barrier (25)
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The gold standard for diagnosis is LCMS/MS as part of NBS, and genetic testing is sometimes recommended to identify the specific mutation causing the condition
[73] Di Marzio L, Moretti S, DAl S, Zazzeroni F, Marcellini S, Smacchia C, Alesse E, Cifone MG, De Simone C.Clin Immunol
