Article
The clinico-radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome.
Molecular genetics & genomic medicine - 1 Oct 2021
Mohamed Montaser M, Bakheet Mohamed A, Magdy Rofaida M, El-Abd Heba S, Alam-Eldeen Mohamad Hasan, Abo-Haded Hany M
Abstract excerpt
BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive inborn error of amino acid metabolism, with unique clinico-radiological findings. This study aims to show the benefit of using the clinico-radiological findings for early diagnosis of children with MSUD, and confirming this diagnosis using the tandem mass spectrometry (MS/MS), in order to avoid deleterious outcome. METHODS: A prospective...
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