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  - Hay Jr., William W.
A2  - Levin, Myron J.
A2  - Abzug, Mark J.
A2  - Bunik, Maya
Y1  - 2020
N1  - 
T2  - Current Diagnosis & Treatment: Pediatrics, 25e
AB  - Disorders  in  which  single-gene  defects  cause  clinically  significant  blocks  in  metabolic  pathways  are  called  inborn  errors  of  metabolism.  Once  considered  rare,  the  number  of  recognized  inborn  errors  has  increased  dramatically,  and  they  are  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 Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accessmedicine.mhmedical.com/content.aspx?aid=1172112040
ER  -