The intricate mechanisms behind genetic disorders are reshaping how we understand human disease. Inborn errors of immunity ...
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 ...
For technical reasons, the English full text will be published approximately two weeks after the German print edition has been published. 1. Barker DJP, Hales CN, Fall CHD, Osmond C, Phipps K ...
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 ...
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 ...