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Pseudoxanthoma elasticum
Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive
inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein …
inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein …
Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment
Pseudoxantoma elasticum (PXE), also known as Groenblad-Strandberg syndrome, is a rare
heritable disease with an estimated prevalence of 1: 50,000 in the general population. PXE …
heritable disease with an estimated prevalence of 1: 50,000 in the general population. PXE …
Fibroblasts' secretome from calcified and non-calcified dermis in Pseudoxanthoma elasticum differently contributes to elastin calcification
Pseudoxanthoma elasticum (PXE) is a rare disease characterized by ectopic calcification,
however, despite the widely spread effect of pro/anti-calcifying systemic factors associated …
however, despite the widely spread effect of pro/anti-calcifying systemic factors associated …
Pseudoxanthoma elasticum, kidney stones and pyrophosphate: from a rare disease to urolithiasis and vascular calcifications
E Letavernier, E Bouderlique, J Zaworski… - International Journal of …, 2019 - mdpi.com
Pseudoxanthoma elasticum is a rare disease mainly due to ABCC6 gene mutations and
characterized by ectopic biomineralization and fragmentation of elastic fibers resulting in …
characterized by ectopic biomineralization and fragmentation of elastic fibers resulting in …
Cutaneous elastic tissue anomalies
I Andrés-Ramos, V Alegría-Landa… - The American Journal …, 2019 - journals.lww.com
After a review of the physiology in the formation and degradation of cutaneous elastic tissue,
we describe the clinicopathologic disorders characterized by increased and decreased …
we describe the clinicopathologic disorders characterized by increased and decreased …
From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders
Ectopic mineralization-inappropriate biomineralization in soft tissues-is a frequent finding in
physiological aging processes and several common disorders, which can be associated …
physiological aging processes and several common disorders, which can be associated …
[HTML][HTML] Histological Findings in the Eyes of Abcc6 Knockout Rat Model of Pseudoxanthoma Elasticum
Purpose: To describe the ocular findings of murine pseudoxanthoma elasticum (PXE)
models with ATP-binding cassette subfamily C member 6 (Abcc6) gene knockout. Methods …
models with ATP-binding cassette subfamily C member 6 (Abcc6) gene knockout. Methods …
[HTML][HTML] The utility of the normal thin section skin biopsy in the assessment of systemic/extracutaneous disease and small fiber neuropathy
CM Magro, C Stephan, T Kalomeris - Clinics in Dermatology, 2024 - Elsevier
Diseases reflective of multiorgan vascular injury of diverse etiology, peripheral nerve
disease, dysautonomia syndromes, and intravascular lymphoma may exhibit abnormalities …
disease, dysautonomia syndromes, and intravascular lymphoma may exhibit abnormalities …
Nonlinear optical microscopy is a novel tool for the analysis of cutaneous alterations in pseudoxanthoma elasticum
Abstract Pseudoxanthoma elasticum (PXE, OMIM 264800) is a rare autosomal recessive
disorder with ectopic mineralization and fragmentation of elastin fibers. It is caused by …
disorder with ectopic mineralization and fragmentation of elastin fibers. It is caused by …
The role of vitamin K and its related compounds in Mendelian and acquired ectopic mineralization disorders
L Nollet, M Van Gils, S Verschuere… - International journal of …, 2019 - mdpi.com
Ectopic mineralization disorders comprise a broad spectrum of inherited or acquired
diseases characterized by aberrant deposition of calcium crystals in multiple organs, such …
diseases characterized by aberrant deposition of calcium crystals in multiple organs, such …