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Guidelines

These include guidelines for: 

The management of organic acidurias Urea cycle disorders Cobalamin-related remethylation disorder
Galactosaemia Congenital disorders of glycosylation Acute porphyria
Phenylketonuria Pyridoxine-dependent epilepsy and mitochondrial neurogastrointestinal encephalomyopathy Neuroimaging surveillance of boys with neurologically asymptomatic adrenoleukodystrophy and for safe drug prescribing in primary mitochondrial disorders