TY  - CHAP
M1  - Book, Section
TI  - Inborn Errors of Metabolism
A1  - Thomas, Janet A.
A1  - Van Hove, Johan L. K.
A1  - Larson, Austin A.
A1  - Baker II, Peter R.
A2  - Bunik, Maya
A2  - Levin, Myron J.
A2  - Abzug, Mark J.
A2  - Schreiner, Teri L.
PY  - 2025
T2  - Current Diagnosis &amp; Treatment: Pediatrics, 27<sup>th</sup> Edition
AB  - Disorders  in  which  single-gene  defects  cause  clinically  significant  blocks  in  metabolic  pathways  are  called  inborn  errors  of  metabolism  (IEM).  Once  considered  rare,  the  number  of  recognized  IEM  has  increased  dramatically,  now  recognized  to  affect  1:1500  children.  Many  of  these  disorders  can  be  treated  effectively.  Even  when  treatment  is  not  available,  correct  diagnosis  permits  parents  to  make  informed  decisions  about  future  offspring.  
SN  - 
PB  - McGraw Hill
CY  - New York, NY
Y2  - 2025/04/27
UR  - accessmedicine.mhmedical.com/content.aspx?aid=1211985824
ER  -