Frontiers2 天
High-risk screening of late-onset Pompe disease: A different early portrait in China
Introduction: The lack of knowledge regarding the differences between Chinese and other ethnicities in the early manifestation of late-onset Pompe disease (LOPD) prohibits the development of an ...
Frontiers2 天
Hereditary orotic aciduria identified by newborn screening
Introduction: Hereditary orotic aciduria is an extremely rare, autosomal recessive disease caused by deficiency of uridine monophosphate synthase. Untreated, affected individuals may develop ...
Medical Xpress27 天
New tool puts reproductive risk for BRCA carriers into perspective
More information: Jacquelyn Powers et al, Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk, Genetics in Medicine (2024). DOI ...
thorax.bmj18 天
Alpha-1 antitrypsin deficiency alleles and severe cystic fibrosis lung disease
Dr R Mahadeva, Department of Haematology, University of Cambridge, MRC Centre, Hills Road, Cambridge CB2 2QH, UK. RESULTS Seventy nine patients were identified (seven dead, 72 transplanted). Two ...