TY  - CHAP
M1  - Book, Section
TI  - Inborn Errors of Metabolism
A1  - Thomas, Janet A.
A1  - Hove, Johan L. K. Van
A1  - Baker, Peter R.
A2  - Hay, Jr., William W.
A2  - Levin, Myron J.
A2  - Deterding, Robin R.
A2  - Abzug, Mark J.
PY  - 2018
T2  - Current Diagnosis & Treatment: Pediatrics, 24e
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  - 2022/08/19
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1153314794
ER  -