TY - CHAP M1 - Book, Section TI - The Adult Patient with Hereditary Metabolic Disease A1 - Lee, Philip J. A2 - Valle, David L. A2 - Antonarakis, Stylianos A2 - Ballabio, Andrea A2 - Beaudet, Arthur L. A2 - Mitchell, Grant A. Y1 - 2019 N1 - 10.1036/ommbid.304 T2 - The Online Metabolic and Molecular Bases of Inherited Disease AB - Monogenic inborn errors of metabolism are a set of disorders inherited in Mendelian fashion, usually as mutant homozygotes for autosomal recessive alleles or as mutant hemizygotes for X-linked alleles. It is their nature to express themselves first in the newborn period or early infancy. Hence, these diseases attract the attention of pediatricians. Accordingly, diagnosis and treatment have been part of pediatric medicine up to now. SN - PB - McGraw-Hill Education CY - New York, NY M3 - doi: 10.1036/ommbid.304 Y2 - 2024/03/29 UR - ommbid.mhmedical.com/content.aspx?aid=1181401185 ER -