Biomarkers

2-Aminoadipic Acid

Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency

Youssef Khalil
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6-Hydroxy-Pipecolate

Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening

Michael F. Wempe
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Biomarkers

X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid

Emmanuel Scalais
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