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

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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Bibliographic Details
Main Authors: Muhammad Wasim, Haq Nawaz Khan, Hina Ayesha, Susanna M. I. Goorden, Frederic M. Vaz, Clara D. M. van Karnebeek, Fazli Rabbi Awan
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-07-01
Series:Frontiers in Neurology
Subjects:
inborn errors of metabolism (IEMs)
intellectual disability
newborn screening (NBS)
evidence based medicine (EBM)
homocystinuria
Pakistan
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2019.00762/full

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https://www.frontiersin.org/article/10.3389/fneur.2019.00762/full

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