Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing - Ghosh, Arunabha; Schlecht, Helene; Heptinstall, Lesley E; Bassett, John K; Cartwright, Eleanor; Bhaskar, Sanjeev S; Urquhart, Jill; Broomfield, Alexander; Morris, Andrew AM; Jameson, Elisabeth; Schwahn, Bernd C; Walter, John H; et al. (Archives of disease in childhood, 2017)
Keywords: Accuracy; Adolescent; Algorithms; Child; Child, Preschool; Childhood; Children; Clinical medicine; Custom design; Diagnosis; DNA sequencing; Female; Gene mutation; Gene mutations; Genes; Genetic disorders; Genetic screening; Genetics; Genomes; Genomics; High-Throughput Nucleotide Sequencing - methods; Humans; Hypoglycemia; Inborn Errors of Metabolism; Infant; Male; Measurement Techniques; Medical diagnosis; Medical screening; Metabolic disorders; Metabolism; Metabolism, Inborn Errors - diagnosis; Metabolism, Inborn Errors - genetics; Metabolism, Inborn errors of; Mutation; Next Generation Sequencing; Nucleotide sequencing; Original article; Pediatrics; Screening Tests; Statistical Analysis; Urine; Young Adult; United States--US; California; Inborn Errors of Metabolism; Metabolic disorders; Next Generation Sequencing