Genetic & Genomic MedicinemedRxivPreprint
Estimation of the global burden of autosomal recessive rare inborn errors of metabolism
Sorbojit Mondal, Kalyan Goswami, Atanu Kumar Dutta
The paper estimates the global carrier frequency and burden of autosomal recessive inborn errors of metabolism using genomic data, finding high carrier frequencies in certain populations and significant newborn prevalence.