However, research for some rare conditions, such as those due to inborn errors of metabolism, is stagnating due to logistical ...

In 1902, shortly after the rediscovery of Gregor Mendel's work by William Bateson 1 and just a few years after the word biochemistry was first coined, Archibald Garrod 2, a practicing physician at ...

Inborn Errors of Metabolism Drug Development 2020 is dedicated to addressing these challenges to ensure that drug developers can achieve their full commercial potential. Access the full event ...

In the past quarter of a century the number of known inborn errors of metabolism has grown from about half a dozen to well over 50. Many of the So-Called "storage diseases" are now being ...

Developmental delay (DD) is common in paediatric practice and is present in 5-10% of children. Detailed evaluation can yield a definitive diagnosis in more than half of these cases and a ...

An additional cyclic pathway for the metabolism of hexose phosphate has recently come to light. This pathway (Fig. 10) appears to function in the synthesis of ascorbic acid, with uronic acids as ...