Search Results - Radhakrishnan, Karthikeyan

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  1. 1
    Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification

    Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification by Schlotawa, Lars, Adang, Laura A., Radhakrishnan, Karthikeyan, Ahrens-Nicklas, Rebecca C.

    Published 2020
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  2. 2
    Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency

    Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency by Schlotawa, Lars, Radhakrishnan, Karthikeyan, Baumgartner, Matthias, Schmid, Regula, Schmidt, Bernhard, Dierks, Thomas, Gärtner, Jutta

    Published 2013
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  3. 3
    Proprotein Convertases Process and Thereby Inactivate Formylglycine-generating Enzyme

    Proprotein Convertases Process and Thereby Inactivate Formylglycine-generating Enzyme by Ennemann, Eva C., Radhakrishnan, Karthikeyan, Mariappan, Malaiyalam, Wachs, Michaela, Pringle, Thomas H., Schmidt, Bernhard, Dierks, Thomas

    Published 2013
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  4. 4
    A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency

    A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency by Staretz‐Chacham, Orna, Schlotawa, Lars, Wormser, Ohad, Golan‐Tripto, Inbal, Birk, Ohad S., Ferreira, Carlos R., Dierks, Thomas, Radhakrishnan, Karthikeyan

    Published 2020
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  5. 5
    SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency

    SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency by Schlotawa, Lars, Ennemann, Eva Charlotte, Radhakrishnan, Karthikeyan, Schmidt, Bernhard, Chakrapani, Anupam, Christen, Hans-Jürgen, Moser, Hugo, Steinmann, Beat, Dierks, Thomas, Gärtner, Jutta

    Published 2011
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  6. 6
    Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease

    Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease by Adang, Laura A., Schlotawa, Lars, Groeschel, Samuel, Kehrer, Christiane, Harzer, Klaus, Staretz‐Chacham, Orna, Silva, Thiago Oliveira, Schwartz, Ida Vanessa D., Gärtner, Jutta, De Castro, Mauricio, Costin, Carrie, Montgomery, Esperanza Font, Dierks, Thomas, Radhakrishnan, Karthikeyan, Ahrens‐Nicklas, Rebecca C.

    Published 2020
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