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Challenges in the management of patients with maple syrup urine disease diagnosed by newborn screening in a developing country
Maple syrup urine disease (MSUD) is a rare inborn error of metabolism resulting from a deficiency in the branched-chain alpha-ketoacid dehydrogenase complex. MSUD has been reported to be the most common inborn error of metabolism in the Philippines. We described all patients with maple syrup urine d...
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| Publicado no: | J Community Genet |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5222756/ https://ncbi.nlm.nih.gov/pubmed/27714667 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12687-016-0281-5 |
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