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

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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

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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

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Multiple Sulfatase Deficiency from an Ophthalmologist’s Perspective—Case Report and Literature Review by Michael P. Schittkowski, Sabine Naxer, Mohamed Elabbasy, Leonie Herholz, Vivian Breitling, Alan Finglas, Jutta Gärtner, Lars Schlotawa

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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

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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

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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

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Unexpected Phenotype Reversion and Survival in a Zebrafish Model of Multiple Sulfatase Deficiency by Angeleen Fleming, Angeleen Fleming, Angeleen Fleming, Low Zhe Xuan, Gentzane Sanchez-Elexpuru, Gentzane Sanchez-Elexpuru, Gentzane Sanchez-Elexpuru, Sarah V. Williams, Sarah V. Williams, Sarah V. Williams, Dylan Windell, Dylan Windell, Dylan Windell, Michael H. Gelb, Zackary M. Herbst, Lars Schlotawa, David C. Rubinsztein, David C. Rubinsztein

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Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency by Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens‐Nicklas, Matthias Baud, Tea Berulava, Nicola Brunetti‐Pierri, Alyssa Gagne, Zackary M Herbst, Jean A Maguire, Jlenia Monfregola, Tonatiuh Pena, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Ballabio, Thomas Dierks, André Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner

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