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

by Lars Schlotawa, Laura A. Adang, Karthikeyan Radhakrishnan, Rebecca C. Ahrens-Nicklas
Published 2020-05-01

Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatab...

by Chris Mühlhausen, Lisa Henneke, Lars Schlotawa, Daniel Behme, Marianne Grüneberg, Jutta Gärtner, Thorsten Marquardt
Published 2020-09-01

Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase

by Lars Schlotawa, Michaela Wachs, Olaf Bernhard, Franz J. Mayer, Thomas Dierks, Bernhard Schmidt, Karthikeyan Radhakrishnan
Published 2018-07-01

Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient

by Lars Schlotawa, Thomas Dierks, Sophie Christoph, Eva Cloppenburg, Andreas Ohlenbusch, G. Christoph Korenke, Jutta Gärtner
Published 2019-09-01

Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia

by Thomas Weber, Lars Schlotawa, Roland Dosch, Noémie Hamilton, Jens Kaiser, Stina Schiller, Britta Wenske, Jutta Gärtner, Marco Henneke
Published 2020-05-01

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

by Orna Staretz‐Chacham, Lars Schlotawa, Ohad Wormser, Inbal Golan‐Tripto, Ohad S. Birk, Carlos R. Ferreira, Thomas Dierks, Karthikeyan Radhakrishnan
Published 2020-09-01

Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

by Kalliopi Sofou, Kolja Meier, Leslie E Sanderson, Debora Kaminski, Laia Montoliu‐Gaya, Emma Samuelsson, Maria Blomqvist, Lotta Agholme, Jutta Gärtner, Chris Mühlhausen, Niklas Darin, Tahsin Stefan Barakat, Lars Schlotawa, Tjakko vanHam, Jorge Asin Cayuela, Fredrik H Sterky
Published 2021-05-01