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- 0000-0002-0186-8560
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The Abcc6a knockout zebrafish model as a novel tool for drug screening for pseudoxanthoma elasticum
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.665-666 -
Serum calcification propensity T50 associates with disease severity in patients with pseudoxanthoma elasticum
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.388-389 -
The pseudoxanthoma elasticum zebrafish model contributes to novel pathophysiological insights and therapeutic strategies in ectopic mineralization
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- Journal Article
- A1
- open access
Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum patients and heterozygous carriers but do not correlate with the genotype or phenotype
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- Conference Paper
- C3
- open access
The pseudoxanthoma elasticum zebrafish model contributes to novel pathophysiological insights and therapeutic strategies in ectopic mineralization
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- Journal Article
- A1
- open access
Serum calcification propensity T50 associates with disease severity in patients with pseudoxanthoma elasticum
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Attenuation of dysfunctional DNA damage response and PARP1 signaling by minocycline reduces ectopic calcification in pseudoxanthoma elasticum
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Plasma inorganic pyrophosphate levels correlate to specific phenotypes and variant archetypes of ABCC6 in pseudoxanthoma elasticum patients
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- Journal Article
- A1
- open access
Minocycline attenuates excessive DNA damage response and reduces ectopic calcification in pseudoxanthoma elasticum
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Pseudoxanthoma elasticum (PXE) patients and heterozygous carriers have decreased plasma PPi levels which correlate with the cardio(vascular) phenotype