TY - CHAP M1 - Book, Section TI - Principles of Inborn Errors of Metabolism A1 - Saudubray, Jean-Marie A1 - Craigen, William J. A1 - Cazorla, Angela Garcia A2 - Kline, Mark W. Y1 - 2018 N1 - T2 - Rudolph's Pediatrics, 23e AB - Over 800 human diseases that are due to inborn errors of metabolism (IEM) are now recognized, and this number is constantly increasing. However, the incidence of inborn errors may well be underestimated because diagnostic errors are frequent. Despite the relative abundance of new case reports, there is considerable evidence, including that based on the recent introduction of next-generation sequencing, that many of these disorders remain undetected or misdiagnosed. More than 300 “new” disorders have been described in the past 5 years, 85% of which present with predominantly neurologic manifestations. Several factors conspire to make the clinical diagnosis of IEM difficult. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/11/05 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1182928184 ER -