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Pharmaceutical Research 2010

Evidence-based : Ensuring clinicians understand the difference between serum B12 levels and clinically active B12 stores, and other suitable tests to determine deficiency as well as symptom resolution with sufficiently frequent treatment

Abbreviations 2-OPP: 6R-oxopropylpiperidine-2-carboxylic acid 3-PGDH: 3-phosphoglycerate dehydrogenase 5-MTHF: 5-methyltetrahydrofolate AADC: Aromatic L-amino acid decarboxylase ADHD: Attention-deficit/hyperactivity disorder ALDH4A1: Acetaldehyde dehydrogenase 4 family member A1 ALDH7A1: Acetaldehyde dehydrogenase 7 family member A1 BTBGD: Biotin-thiamine responsive basal ganglia disease BTD: Biotinase deficiency FH4: Tetrahydrofolate FR1: Folate receptor protein 1 GSA: Glutamate semialdehyde GTC: Generalized tonic-clonic GTCS: Generalized tonic-clonic seizures HPII: Type II hyperprolinemia HVA: Homovanillic acid NMDA: N-methyl-D-aspartate P5C: Pyrroline-5-carboxylate P5CDH: Delta(1)-pyrroline-5-carboxylate dehydrogenase P6C: Piperideine 6-carboxylate PCFT: Proton-coupled folate transporter PL: Pyridoxal PLP: Pyridoxal 5'-phosphate PLPHP: Pyridoxal phosphate homeostasis protein PM: Pyridoxamine PN: Pyridoxine PNPO: Pyridoxal (amine) 5'-phosphate oxidase PPI: Inorganic pyrophosphate SAH: S-adenosylhomocysteine SAM: S-adenosylmethionine SIA: Seizures with impaired awareness THTR2: Thiamine transporter protein 2 TNSALP: Tissue non-specific alkaline phosphatase -AASA: -aminoadipic semialdehyde References Devinsky O, Vezzani A, OBrien TJ, Jette N, Scheffer IE, de Curtis M, et al

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