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We describe two neonates presenting with perinatal hypophosphatasia and severe epileptic encephalopathy resulting in death. Both had increased levels of urinary vanillactate, indicating functional(More)
We report a neonate with medium chain acyl-coenzyme A dehydrogenase deficiency (MCAD) who had a cardiac arrest due to ventricular tachycardia and fibrillation. Extracorporeal life support (ECLS) was(More)
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