Inborn Errors of Metabolism - References

References:

1. Treatment Wertheim-Tysarowska, K., et al. (2015). "Genetic analysis in inherited metabolic disorders--from diagnosis to treatment. Own experience, current state of knowledge and perspectives." Dev Period Med 19(4): 413-431.
2. Raghuveer, T. S., et al. (2006). "Inborn errors of metabolism in infancy and early childhood: an update." Am Fam Physician 73(11): 1981-1990.
3. Inborn Errors of Metabolism - (https://medlineplus.gov/ency/article/002438.htm)
4. IEM causes - (https://www.genome.gov/27551373/the-nih-mini-study-general-information-about-inborn-errors-of-metabolism/)
5. Hurler syndrome - (https://medlineplus.gov/ency/article/001204.htm)
6. Niemann-Pick disease - (https://medlineplus.gov/ency/article/001207.htm)
7. Tay-Sachs disease - (https://www.genome.gov/10001220/learning-about-taysachs-disease/)
8. Gaucher disease - (https://www.genome.gov/25521505/learning-about-gaucher-disease/)
9. Galactosemia - (https://rarediseases.org/rare-diseases/galactosemia/)
10. Maple Syrup Urine Disease - (https://rarediseases.org/rare-diseases/maple-syrup-urine-disease/)
11. Phenylketonuria - (http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/definition/con-20026275)
12. Glycogen storage disease - (http://www.agsdus.org/what-is-gsd.php)
13. Diagnosis of inborn errors of metabolism - (http://pediatrics.aappublications.org/content/102/6/e69)
14. Newborn screening - (https://medlineplus.gov/newbornscreening.html)
15. Alkaptonuria - (https://rarediseases.org/rare-diseases/alkaptonuria/)

Author: Areeba Khan

Editor: Dr. Simi Paknikar

Technically Checked by: Lingaraj