Five patients with severe spinal muscular atrophy (SMA) type I, all of whom presented with reduced fetal movements in utero, severe weakness at birth, and short survival time were assessed to attempt to determine whether their phenotype...
Spinal muscular atrophy (SMA) is a leading inherited cause of infant death with a reported incidence of ∼1 in 10 000 live births and is second to cystic fibrosis as a common, life-shortening autosomal recessive disorder.
Avion Pharmaceuticals, LLC, the makers of the Prenate line of prescription prenatal vitamins, received approval of its new drug application...
We report the safety and efficacy results of in utero enzyme-replacement therapy (ERT) in a fetus with CRIM (cross-reactive immunologic material)-negative infantile-onset Pompe's disease.
This document provides recommendations based on best available evidence and consensus for the assessment and diagnosis of children and young people affected by PAE.
Autosomal recessive polycystic kidney disease (ARPKD) is a hepatorenal fibrocystic disorder that is characterized by enlarged kidneys with progressive loss of renal function and biliary duct dilatation and congenital hepatic fibrosis that leads to portal hypertension in some patients.
Elevated levels of a dichlorodiphenyltrichloroethane (DDT) metabolite in pregnant women provide the first biomarker evidence that the banned insecticide is...
Multiplex ligation-dependent probe amplification (MLPA) is a modern quantitative molecular method. Applied in SMA cases, it improves diagnostics by simultaneously identifying the number of copies of several target sequences in...
Xermelo is indicated for the treatment of carcinoid syndrome diarrhoea in combination with somatostatin analogue (SSA) therapy in adults inadequately controlled by SSA therapy.
Our current knowledge of the benefits and drawbacks of vitamin D supplements in pregnancy is insufficient to recommend their use, leading a team of researchers to analyse the current evidence with the aim of clarifying this contentious issue.