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

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 ...

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 ...

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 ...

1 Pediatric Department A', Ha'Emek Medical Center, Afula, Israel 2 Genetic Institute, Ha'Emek Medical Center, Afula, Israel 3 Rappaport School of Medicine, Technion, Medical Center, Haifa, Israel 4 ...

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 ...

Six babies died of causes unrelated to brain pathology: subject B as the result of a road traffic accident (aged 1.9 years); subject E from overwhelming candidal septicaemia (day 28); subject I with ...

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 ...