TY  - CHAP
M1  - Book, Section
TI  - The Lungs in Patients with Inborn Errors of Metabolism
A1  - Allen, Timothy Craig
A2  - Grippi, Michael A.
A2  - Antin-Ozerkis, Danielle E.
A2  - Dela Cruz, Charles S.
A2  - Kotloff, Robert M.
A2  - Kotton, Camille Nelson
A2  - Pack, Allan I.
Y1  - 2023
N1  - 
T2  - Fishman’s Pulmonary Diseases and Disorders, 6e
AB  - A  variety  of  inherited  systemic  conditions  cause  different  types  of  disease-producing  chemical  imbalances  affecting  essentially  all  organs  to  some  degree;  these  conditions  are  called  inborn  errors  of  metabolism  and  also  are  termed  inherited  metabolic  disorders.1–16  Each  is  characterized  by  a  specific  genetic  defect  resulting  in  an  abnormality  of  an  enzyme  necessary  for  the  degradation  of  a  chemical  substance.2,6  The  disruption  of  the  chemical  constituent’s  degradation  results  in  disease  by  causing  either  a  deficiency  of  a  substance  or  a  pathologic  accumulation  of  a  substance.1,2,6,9  The  first  of  these  disorders  was  identified  by  Sir  Archibald  Garrod,  who  coined  the  term  inborn  errors  of  metabolism  in  1902.14  There  are  currently  more  than  600  inborn  errors  of  metabolism  that  have  been  discovered.2,15  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/20
UR  - accessmedicine.mhmedical.com/content.aspx?aid=1195007171
ER  -