RT Book, Section
A1 Jimenez-Sanchez, Gerardo
A1 Childs, Barton
A1 Valle, David
A2 Valle, David L.
A2 Antonarakis, Stylianos
A2 Ballabio, Andrea
A2 Beaudet, Arthur L.
A2 Mitchell, Grant A.
SR Print(0)
ID 1181400952
T1 The Effect of Mendelian Disease on Human Health
T2 The Online Metabolic and Molecular Bases of Inherited Disease
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071459969
LK ommbid.mhmedical.com/content.aspx?aid=1181400952
RD 2024/04/23
AB Archibald  Garrod  recognized  that  alkaptonuria  was  a  disorder  reflecting  Mendelian  inheritance  in  the  human  population.  In  1902,  that  was  an  observation  with  remarkable  insight.  Garrod  called  this  and  three  other  Mendelian  disorders  (cystinuria,  pentosuria,  and  albanism)  examples  of  human  biochemical  individuality.  Another  50  years  would  elapse  before  our  understanding  of  the  inborn  errors  of  metabolism  would  lead  to  a  field  of  inquiry  called  “human  biochemical  genetics.”  The  growth  of  knowledge  in  this  field,  in  the  latter  half  of  the  20th  century,  is  reflected  in  the  expansion  of  information  in  The  Metabolic  and  Molecular  Bases  of  Inherited  Disease.