TY  - CHAP
M1  - Book, Section
TI  - The Lungs in Patients with Inborn Errors of Metabolism
A1  - Allen, Timothy Craig
A2  - Grippi, Michael A.
A2  - Elias, Jack A.
A2  - Fishman, Jay A.
A2  - Kotloff, Robert M.
A2  - Pack, Allan I.
A2  - Senior, Robert M.
A2  - Siegel, Mark D.
PY  - 2015
T2  - Fishman's Pulmonary Diseases and Disorders, 5e
AB  - Inborn  errors  of  metabolism,  also  termed  “inherited  metabolic  disorders,”  are  a  group  of  inherited  systemic  conditions  involving  various  types  of  chemical  imbalances  that  cause  disease  and  affect  essentially  all  organs  to  a  greater  or  lesser  degree.1–9  Each  of  the  diseases  is  characterized  by  a  specific  genetic  defect  that  causes  an  abnormality  of  an  enzyme  necessary  for  the  degradation  of  some  chemical  substance.2  The  disruption  of  degradation  leads  to  disease  due  to  the  deficiency  of  a  substance  or  to  the  pathologic  accumulation  of  a  substance.2,5  The  first  inborn  errors  of  metabolism  were  identified  about  a  century  ago.  Sir  Archibald  Garrod  coined  the  phrase  in  1902.10  Today,  there  are  over  500  inborn  errors  of  metabolism  identified.11  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/16
UR  - accessmedicine.mhmedical.com/content.aspx?aid=1122361903
ER  -