RT Book, Section
A1 Steele, Paul
A2 Laposata, Michael
SR Print(0)
ID 1104502710
T1 Diseases of Infancy and Childhood
T2 Laboratory Medicine: The Diagnosis of Disease in the Clinical Laboratory
YR 2014
FD 2014
PB McGraw-Hill Education
PP New York, NY
SN 978-0-07-180554-4
LK accessmedicine.mhmedical.com/content.aspx?aid=1104502710
RD 2024/04/19
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