The José Martí Pérez Provincial Pediatric Teaching Hospital in Sancti Spíritus expressed its condolences on Sunday following ...

Finally, mutations in the mevalonate kinase (MVK) gene, which were known to be principally associated with mevalonic aciduria, were recently associated with non-syndromic retinitis pigmentosa. We ...

Last year, it also won a £1.5 million ($1.8 million) grant from Innovate UK to develop an exosome-based therapy to treat argininosuccinic aciduria (ASA) – a rare life-threatening metabolic ...

Sandra A. Banta-Wright, MN, RNC, NNP; Robert D. Steiner, MD Neonates with profound and prolonged hyperammonemia with coma due to urea cycle defect will have had a neurological insult to the brain ...

RNA-based therapeutics have rapidly emerged over the past decade, offering a new class of medicines that differ significantly from conventional drugs. These therapies can be programmed to target or ...

Towards the end of the first day he developed severe metabolic acidosis (pH 7.03) and significantly elevated plasma and CSF lactate. Urine analysis revealed generalised amino aciduria and excessive ...

The term dilated cardiomyopathy (DCM) refers to a spectrum of heterogeneous myocardial disorders that are characterized by ventricular dilation and depressed myocardial performance in the absence of ...

Government of India has provided tax relief on life-saving drugs and medicines used for rare diseases. As per the Ministry of Finance’s response in Rajya Sabha on February 11, 2025, basic customs duty ...