Publications by authors named "David Wolthuis"

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Model-informed repurposing of eliglustat for treatment and prophylaxis of Shiga toxin-producing Escherichia coli hemolytic-uremic syndrome (STEC-HUS) in children.
David F G J Wolthuis, Jolien J M Freriksen, Mendy Ter Avest, Reena V Kartha, Saskia N de Wildt

Pediatr Nephrol· June 2025

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Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between SLCO1B1 and statins and CYP2C9 and sulfonylureas.
David F G J Wolthuis, Marga Nijenhuis, Bianca Soree, Nienke J de Boer-Veger, Anne Marie Buunk

Eur J Hum Genet· April 2025

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Switching from prednisolone to dexamethasone in difficult-to-treat rheumatoid arthritis.
Floor Kerstens, Karin Spijkers, David Wolthuis, Maarten Boers, Noortje van Herwaarden

Rheumatology (Oxford)· January 2024

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POCUS in dyspnea, nontraumatic hypotension, and shock; a systematic review of existing evidence.
Bram Kok, David Wolthuis, Frank Bosch, Hans van der Hoeven, Michiel Blans

Eur J Intern Med· December 2022

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Spontaneous Splenic Rupture in an Ill Returned Traveller.
David Fgj Wolthuis, Ron W Bosboom, Robert-Jan Hassing

Eur J Case Rep Intern Med· September 2020

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Limited skin lesions in a haemodialysis patient.
David F G J Wolthuis, Saskia de Mare, Jacobien C Verhave

Eur J Intern Med· February 2020

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Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
Thatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, Daniela Karall, Sergio Guerrero-Castillo, David F G J Wolthuis

Am J Hum Genet· April 2018

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NAFLD Phenotype in Patients With V-ATPase Proton Pump Assembly Defects.
Jos C Jansen, David Wolthuis, Monique Van Scherpenzeel, Vlad Ratziu, Joost P H Drenth

Cell Mol Gastroenterol Hepatol· March 2018

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Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
David F G J Wolthuis, Ellyze van Asbeck, Miski Mohamed, Thatjana Gardeitchik, Elizabeth R Lim-Melia

Eur J Paediatr Neurol· July 2014

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A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract.
Ellyze Van Asbeck, David F G J Wolthuis, Miski Mohamed, Ron A Wevers, Cristoph G Korenke

Am J Med Genet A· April 2014

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Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.
David F G J Wolthuis, Miriam C Janssen, David Cassiman, Dirk J Lefeber, Eva Morava

Expert Rev Mol Diagn· March 2014

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Apoptosis and NET formation in the pathogenesis of SLE.
Yvette M Bouts, David F G J Wolthuis, Michiel F M Dirkx, Elmar Pieterse, Esther M F Simons

Autoimmunity· December 2012

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