RT Book, Section
A1 Cross, Harold
A2 Janson, Lee W.
A2 Tischler, Marc E.
SR Print(0)
ID 1152119205
T1 BIOCHEMICAL BASIS OF DISEASES
T2 The Big Picture: Medical Biochemistry
YR 2018
FD 2018
PB McGraw-Hill Education
PP New York, NY
SN 9780071637916
LK accessmedicine.mhmedical.com/content.aspx?aid=1152119205
RD 2024/04/23
AB This  appendix  presents  selected  examples  of  inherited  diseases  affecting  basic  biochemical  processes.  Diseases  are  categorized  as  per  their  involvement  with  the  four  basic  categories  of  biochemical  molecules  (amino  acids/proteins,  carbohydrates/glycoproteins,  lipids/glycolipids,  and  nucleic  acids/deoxyribo-nucleic  acid).  Additional  categories  of  mitochondrial  enzymes  and  diseases  affecting  bilirubin,  blood  clotting,  steroid  hormones,  and  vitamins/minerals/electrolytes  are  also  provided.  Inheritance  is  predominately  autosomal  recessive  unless  otherwise  stated.  Minor  variations  of  these  genetic  diseases  may  not  be  noted.