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Molecular Genetics and Metabolism|February 2, 2006
Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type IMark J Magera, Nishantha D Gunawardena, Si Houn Hahn, et al.European Journal of Pediatrics|January 12, 2012
Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performanceFelix Votava, Dana Novotna, Petr Kracmar, et al.Journal of Assisted Reproduction and Genetics|September 28, 2014
Composition of protein supplements used for human embryo cultureDean E Morbeck, Melissa Paczkowski, Jolene R Fredrickson, et al.Scientific Reports|May 30, 2026
Analysis of purines and pyrimidines across biospecimens: influence of storage temperature and durationRachel Wurth, Coleman Turgeon, Jean Lacey, et al.Human Gene Therapy|January 18, 2006
Systemic correction of a fatty acid oxidation defect by intramuscular injection of a recombinant adeno-associated virus vectorThomas J Conlon, Glenn Walter, Renius Owen, et al.Journal of Pediatric Gastroenterology and Nutrition|December 19, 2013
Dietary docosahexaenoic acid supplementation in children with autismRobert G Voigt, Michael W Mellon, Slavica K Katusic, et al.Molecular Genetics & Genomic Medicine|November 28, 2017
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduriaRamanath Majumdar, Andrew Yori, Peggy W Rush, et al.The Journal of Molecular Diagnostics : JMD|August 23, 2017
A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn ScreeningNoemi Vidal-Folch, Dragana Milosevic, Ramanath Majumdar, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|May 8, 2013
Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testingAdam J Guenzel, Sean E Hofherr, Matthew Hillestad, et al.Kidney International|February 4, 2018
Reduced active transcellular intestinal oxalate secretion contributes to the pathogenesis of obesity-associated hyperoxaluriaRuhul Amin, John Asplin, Daniel Jung, et al.Pageof 17