Closing the gap: an urgent need for newborn screening of organic acid disorders in developing countries
Organic acid disorders are rare inherited metabolic disorders of key metabolic pathways. For the identification of specific organic acids, investigation of urinary metabolites and genetic testing are required through newborn screening programmes. Delayed diagnosis leads to complications, such as ca...
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| Главные авторы: | , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Pakistan Medical Association
2024-05-01
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| Серии: | Journal of the Pakistan Medical Association |
| Предметы: | |
| Online-ссылка: | https://jpma.org.pk/index.php/public_html/article/view/10223 |
| Метки: |
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