TY - CHAP M1 - Book, Section TI - Diseases of Infancy and Childhood A1 - Steele, Paul A2 - Laposata, Michael Y1 - 2014 N1 - T2 - Laboratory Medicine: The Diagnosis of Disease in the Clinical Laboratory AB - Identify the clinical testing of situations that indicate the need for prenatal testing of mother and/or infant, and the clinical consequences of premature birth.Understand the rationale for selection of laboratory tests in neonatal screening programs.Learn the assessment for diagnosis of Down syndrome and the clinical situations in which it is most often performed.Learn the underlying defects that produce hemolytic disease of the newborn and cystic fibrosis and the laboratory test abnormalities associated with these disorders.Learn the names of the diseases and the associated biochemical defects for the more commonly encountered or better characterized inborn errors of metabolism in the following categories:Amino acidurias not involving urea cycle enzymesAmino acidurias involving urea cycle enzymesLysosomal storage diseases with impaired degradation of sphingolipidsLysosomal storage diseases with impaired degradation of mucopolysaccharidesLysosomal storage diseases with impaired degradation of glycogen SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accessmedicine.mhmedical.com/content.aspx?aid=1104502710 ER -