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(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2007)
Background
Progressive encephalopathy (PE) in children is a heterogeneous group of diseases mainly composed of metabolic diseases, but it consists also of neurodegenerative disorders where neither metabolic ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2007)
Background
2-methylbutyryl-CoA dehydrogenase deficiency or short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is caused by a defect in the degradation pathway of the amino acid L-isoleucine.
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