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AGC1 deficiency associated with global cerebral hypomyelination.
Wibom R, Lasorsa FM, Töhönen V, Barbaro M, Sterky FH, Kucinski T, Naess K, Jonsson M, Pierri CL, Palmieri F, Wedell A. Wibom R, et al. Among authors: barbaro m. N Engl J Med. 2009 Jul 30;361(5):489-95. doi: 10.1056/NEJMoa0900591. N Engl J Med. 2009. PMID: 19641205 Free article.
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
Freyer C, Stranneheim H, Naess K, Mourier A, Felser A, Maffezzini C, Lesko N, Bruhn H, Engvall M, Wibom R, Barbaro M, Hinze Y, Magnusson M, Andeer R, Zetterström RH, von Döbeln U, Wredenberg A, Wedell A. Freyer C, et al. Among authors: barbaro m. J Med Genet. 2015 Nov;52(11):779-83. doi: 10.1136/jmedgenet-2015-102986. Epub 2015 Jun 17. J Med Genet. 2015. PMID: 26084283 Free PMC article.
Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.
Maffezzini C, Laine I, Dallabona C, Clemente P, Calvo-Garrido J, Wibom R, Naess K, Barbaro M, Falk A, Donnini C, Freyer C, Wredenberg A, Wedell A. Maffezzini C, et al. Among authors: barbaro m. Mol Genet Genomic Med. 2019 Jun;7(6):e654. doi: 10.1002/mgg3.654. Epub 2019 Mar 28. Mol Genet Genomic Med. 2019. PMID: 30920170 Free PMC article.
Disorders of sex development.
Barbaro M, Wedell A, Nordenström A. Barbaro M, et al. Semin Fetal Neonatal Med. 2011 Apr;16(2):119-27. doi: 10.1016/j.siny.2011.01.001. Semin Fetal Neonatal Med. 2011. PMID: 21303737 Review.
Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.
Naess K, Barbaro M, Bruhn H, Wibom R, Nennesmo I, von Döbeln U, Larsson NG, Nemeth A, Lesko N. Naess K, et al. Among authors: barbaro m. JIMD Rep. 2012;4:67-73. doi: 10.1007/8904_2011_73. Epub 2011 Oct 20. JIMD Rep. 2012. PMID: 23430898 Free PMC article.
253 results