Inborn errors of metabolism represent a special challenge in general and paediatric practice. The development and prognosis of the affected child may depend on

The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A

Accurate interpretation of the organic acid chromatographs obtained from the gas chromatography/mass spectrometry requires a significant amount of practice. Pat

As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend,