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Maple syrup urine disease: An uncommon cause for neonatal metabolic distress
Maple Syrup Urine Disease is an autosomal recessive disorder caused by a deficiency in the activity of the branched-chain α-ketoacid dehydrogenase complex. This rare disorder represents one of the causes of acute neonatal illness which results in devastating disturbances of neurological development....
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer India
1999
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3453579/ https://ncbi.nlm.nih.gov/pubmed/23105219 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/BF02867919 |
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