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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...
Autores principales: | Wasim, Muhammad, Khan, Haq Nawaz, Ayesha, Hina, Goorden, Susanna M. I., Vaz, Frederic M., van Karnebeek, Clara D. M., Awan, Fazli Rabbi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2019
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Materias: | |
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 |
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