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David F.G.J. Wolthuis

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies
2018 · Thatjana Gardeitchik, Miski Mohamed, et al. · The American Journal of Human Genetics · 80
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Apoptosis and NET formation in the pathogenesis of SLE
2012 · Yvette M. Bouts, David F.G.J. Wolthuis, et al. · Autoimmunity · 78
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature
2014 · David F.G.J. Wolthuis, Ellyze van Asbeck, et al. · European Journal of Paediatric Neurology · 43
POCUS in dyspnea, nontraumatic hypotension, and shock; a systematic review of existing evidence
2022 · Bram Kok, David Wolthuis, et al. · European Journal of Internal Medicine · 40
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Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation
2014 · David FGJ Wolthuis, Miriam C Janssen, et al. · Expert Review of Molecular Diagnostics · 19
Abnormal fat distribution in PMM2-CDG
2013 · D.F.G.J. Wolthuis, E.V. van Asbeck, et al. · Molecular Genetics and Metabolism · 12
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between SLCO1B1 and statins and CYP2C9 and sulfonylureas
2024 · David F. G. J. Wolthuis, Marga Nijenhuis, et al. · European Journal of Human Genetics · 11
Switching from prednisolone to dexamethasone in difficult-to-treat rheumatoid arthritis
2023 · Floor Kerstens, Karin Spijkers, et al. · Lara D. Veeken · 8
A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract
2014 · Ellyze Van Asbeck, David F.G.J. Wolthuis, et al. · American Journal of Medical Genetics Part A · 5
Spontaneous Splenic Rupture in an Ill Returned Traveller
2020 · David FGJ Wolthuis, Ron W Bosboom, et al. · European Journal of Case Reports in Internal Medicine · 3
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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
2025 · David F. G. J. Wolthuis, Jolien J. M. Freriksen, et al. · Pediatric Nephrology · 1
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NAFLD Phenotype in Patients With V-ATPase Proton Pump Assembly Defects
2018 · Jos C. Jansen, David Wolthuis, et al. · Cellular and Molecular Gastroenterology and Hepatology · 1
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Point-of-care ultrasound in patients with dyspnea, nontraumatic hypotension, and shock: a systematic review protocol
2022 · Radboudumc, Bram Kok, et al.
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[A woman with oedema of the lower legs].
2021 · D F G J Wolthuis, A C van Bon · PubMed
Answer to Photoquiz A bone disorder with skin lesions.
2020 · L Hendrikx, D F G J Wolthuis, et al. · PubMed
A bone disorder with skin lesions.
2020 · L Hendrikx, D F G J Wolthuis, et al. · PubMed
Limited skin lesions in a haemodialysis patient
2019 · David F.G.J. Wolthuis, Saskia de Mare, et al. · European Journal of Internal Medicine
Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation (vol 14, pg 217, 2014 )
2014 · David F.G.J. Wolthuis, Miriam C Janssen, et al.
Works count: 18
Citation count: 301
H-index: 8
I10-index: 7
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