Jose Angel Santamaria-Araujo

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Hydrogenated (reduced) pterins are found in all living organisms, where they are involved in key metabolic processes. Molybdenum in its biologically active form is bound to a fully reduced tetrahydropyranopterin referred to as a metal-binding pterin (MPT), forming the so-called molybdenum cofactor (Moco). Cyclic pyranopterin monophosphate (cPMP) is the(More)
Molybdenum cofactor (MoCo) deficiency is a rare, autosomal-recessive disorder, mainly caused by mutations in MOCS1 (MoCo deficiency type A) or MOCS2 (MoCo deficiency type B) genes; the absence of active MoCo results in a deficiency in all MoCo-dependent enzymes. Patients with MoCo deficiency present with neonatal seizures, feeding difficulties, severe(More)
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