Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan

Inborn errors of metabolism (IEMs) are rare group of genetic disorders comprising of more than 1,000 different types. Around 200 of IEMs are potentially treatable through diet, pharmacological and other therapies, if diagnosed earlier in life. IEMs can be diagnosed early through newborn screening (N...

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Detalles Bibliográficos
Autores principales: Wasim, Muhammad, Khan, Haq Nawaz, Ayesha, Hina, Goorden, Susanna M. I., Vaz, Frederic M., van Karnebeek, Clara D. M., Awan, Fazli Rabbi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6650569/
https://www.ncbi.nlm.nih.gov/pubmed/31379716
http://dx.doi.org/10.3389/fneur.2019.00762

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6650569/
https://www.ncbi.nlm.nih.gov/pubmed/31379716
http://dx.doi.org/10.3389/fneur.2019.00762

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