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A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.
Biochim Biophys Acta. 2012 Feb;1822(2):168-75. doi: 10.1016/j.bbadis.2011.10.012. Epub 2011 Oct 20.
Biochim Biophys Acta. 2012.
PMID: 22036843
Free article.
Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies.
Fiumara A, Bräutigam C, Hyland K, Sharma R, Lagae L, Stoltenborg B, Hoffmann GF, Jaeken J, Wevers RA.
Fiumara A, et al. Among authors: stoltenborg b.
Neuropediatrics. 2002 Aug;33(4):203-8. doi: 10.1055/s-2002-34497.
Neuropediatrics. 2002.
PMID: 12368991
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