Mitochondrial disorders are the most common inborn error of metabolism, affecting 1 in 5000 live births. Complex I (CI) de ciency is the most common cause of paediatric mitochondrial disease. Deleterious mutations in CI ...

The healthy functioning of the kidney requires the orchestrated action of its two functional units, nephrons and the collecting duct system (CD). Therefore malfunction of either of these two essential compartments can lead ...

Cardiopulmonary development and maturation involves numerous intracellular protein signalling pathways. Any alteration to these pathways may lead to the development of congenital heart and lung defects. One such important ...

Children born very preterm (VP; <32 weeks’ gestation) show wide-ranging long-term neuropsychological difficulties compared with their term-born peers, including reduced language, attention, memory and learning. One area ...

Friedreich ataxia (FRDA) is a debilitating neurodegenerative disorder which affects 1 in 29 000 individuals of Caucasian descent. Disease onset is typically between 10-15 years of age and it is primarily characterised by ...

Mitochondrial diseases are debilitating illnesses caused by mutations that impair mitochondrial energy generation. The most common clinical presentation of mitochondrial disease in children is Leigh syndrome. This ...

Paediatric arterial ischaemic stroke (AIS) affects between 1.6-2.7 per 100,000 children per year. Motor impairments are the most commonly reported adverse consequence following paediatric arterial ischaemic stroke, yet the ...

INTRODUCTION: Hypoplastic left heart syndrome (HLHS) is a congenital heart defect that involves severe underdevelopment of the left-sided heart structures. Despite the severity of the cardiac deformity, HLHS is compatible ...

Tuberculosis (TB) is the leading cause of infectious disease mortality worldwide. Accurate and timely diagnosis of both active TB and latent TB infection (LTBI) is essential to controlling the TB pandemic. Current diagnostic ...

Agenesis of the corpus callosum (ACC) is a malformation of brain development characterised by the complete or partial absence of the corpus callosum, the largest white matter tract in the human brain. ACC is one of the ...