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Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B. Dierks T, et al. Among authors: radhakrishnan k. Biochim Biophys Acta. 2009 Apr;1793(4):710-25. doi: 10.1016/j.bbamcr.2008.11.015. Epub 2008 Dec 10. Biochim Biophys Acta. 2009. PMID: 19124046 Free article. Review.
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
Schlotawa L, Ennemann EC, Radhakrishnan K, Schmidt B, Chakrapani A, Christen HJ, Moser H, Steinmann B, Dierks T, Gärtner J. Schlotawa L, et al. Among authors: radhakrishnan k. Eur J Hum Genet. 2011 Mar;19(3):253-61. doi: 10.1038/ejhg.2010.219. Epub 2011 Jan 12. Eur J Hum Genet. 2011. PMID: 21224894 Free PMC article.
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
Staretz-Chacham O, Schlotawa L, Wormser O, Golan-Tripto I, Birk OS, Ferreira CR, Dierks T, Radhakrishnan K. Staretz-Chacham O, et al. Among authors: radhakrishnan k. Mol Genet Genomic Med. 2020 Sep;8(9):e1167. doi: 10.1002/mgg3.1167. Epub 2020 Feb 12. Mol Genet Genomic Med. 2020. PMID: 32048457 Free PMC article.
591 results