Disease: Pseudoxanthoma elasticum- recessive form
- ABCC6 as a target in pseudoxanthoma elasticum
- ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release
- Carotid rete mirabile and pseudoxanthoma elasticum: an accidental association?
- Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in <em>ENPP1</em> Gene
- Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene
- Clinical and Molecular Characterization of a Patient with Generalized Arterial Calcification of Infancy Caused by Rare <em>ABCC6</em> Mutation
- Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene
- Does the absence of ABCC6 (multidrug resistance protein 6) in patients with Pseudoxanthoma elasticum prevent the liver from providing sufficient vitamin K to the periphery?
- Generalized pseudoxanthoma elasticum combined with vitamin K dependent clotting factors deficiency
- Genetics of hereditary cutaneous diseases associated with digestive tract involvement
- Heritable Ectopic Mineralization Disorders: Pathomechanisms and Potential Treatment
- Heterogeneity of pseudoxanthoma elasticum: delineation of a new form?
- Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE)
- Light and electron microscopy of pseudoxanthoma elasticum
- Pseudoxanthoma elasticum in pregnancy
- Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms
- Pseudoxanthoma-elasticum-like syndrome and thalassemia: an update
- Rheumatological complications of beta-thalassaemia: an overview
- Systemic cutis laxa-like pseudoxanthoma elasticum
- The effects of metabolic diseases on the cardiovascular system
- Whole exome sequencing identified three ABCC6 variants in two Pakistani families with pseudoxanthoma elasticum phenotype