RT Book, Section
A1 Pyeritz, Reed E.
A2 Papadakis, Maxine A.
A2 McPhee, Stephen J.
A2 Rabow, Michael W.
SR Print(0)
ID 1175797738
T1 Biochemical Genetics
T2 Current Medical Diagnosis & Treatment 2021
YR 2021
FD 2021
PB McGraw-Hill Education
PP New York, NY
SN 9781260469868
LK accessmedicine.mhmedical.com/content.aspx?aid=1175797738
RD 2023/06/08
AB Biochemical  genetics  deals  not  only  with  enzymatic  defects  but  also  with  proteins  of  all  functions,  including  cytoskeletal  and  extracellular  structure,  regulation,  and  signaling.  The  principal  functions  of  the  biochemical  genetics  laboratory  are  to  determine  the  presence  or  absence  of  proteins,  to  assess  the  qualitative  characteristics  of  proteins,  to  assay  metabolites,  and  to  verify  the  effectiveness  of  proteins  in  vitro.  The  key  elements  from  the  referring  clinician's  perspective  are  (1)  to  indicate  what  the  suspected  clinical  diagnoses  are  and  (2)  to  make  certain  that  the  proper  specimen  is  obtained  and  transported  to  the  laboratory  in  a  timely  manner.