Indication: Topic:
Cells
Inhibition of Vascular Smooth Muscle Cell Proliferation by ENPP1: The Role of CD73 and the Adenosine Signaling Axis
Filter: + ENPP1 + General
Bone
ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency 2024
Filter: + ENPP1 + General
Bone
Effects of food, fasting, and exercise on plasma pyrophosphate levels and ENPP1 activity in healthy adults 2023
Filter: + ENPP1 + General
Orphanet Journal of Rare Diseases
Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases 2022
Filter: + ENPP1 + General + Disease Presentation
Human Mutation
ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database 2022
Filter: + ENPP1 + Disease Presentation
PLOS ONE
Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective 2022
Filter: + ABCC6 + ENPP1 + General
The Journal of Clinical Endocrinology and Metabolism
A Reference Range for Plasma Levels of Inorganic Pyrophosphate in Children Using the ATP Sulfurylase Method 2021
Filter: + ABCC6 + Pathophysiology
Science Direct
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency 2021
Filter: + ENPP1 + General
The Journal of Bone and Mineral Research
Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiency 2021
Filter: + ENPP1 + General
Current Opinion in Pharmacology
New perspectives on rare connective tissue calcifying diseases 2021
Filter: + ENPP1 + Pathophysiology
Journal of Bone and Mineral Research
Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice 2021
Filter: + ENPP1 + INZ-701
Genetics in Medicine
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI) 2020
Filter: + ENPP1 + Disease Presentation
The Journal RETINA
Visual Acuity in Pseudoxanthoma Elasticum 2019
Filter: + ABCC6 + Disease Presentation
Science Direct
Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders 2019
Filter: + ABCC6 + Pathophysiology
Experimental & Molecular Medicine
ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP 2018
Filter: + ENPP1 + INZ-701
Journal of Investigative Dermatology
Alteration of Extracellular Nucleotide Metabolism in Pseudoxanthoma Elasticum 2018
Filter: + ABCC6 + Pathophysiology
Current Opinion in Pharmacology
Pyrophosphate: a key inhibitor of mineralization 2016
Filter: + ENPP1 + Pathophysiology
Nature Communications
ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy 2015
Filter: + ENPP1 + Disease Presentation
Frontiers in Genetics
The vascular phenotype in pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcification 2013
Filter: + ABCC6 + Disease Presentation
Science Direct
New insights into NPP1 function: Lessons from clinical and animal studies 2012
Filter: + ENPP1 + Pathophysiology
The American Journal of Human Genetics (AJHG)
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6 2011
Filter: + ABCC6 + ENPP1 + Disease Presentation
Pediatric and Developmental Pathology
Idiopathic Infantile Arterial Calcification: The Spectrum of Clinical Presentations 2010
Filter: + ENPP1 + Disease Presentation
Pediatric and Developmental Pathology
Hypophosphatemia, Hyperphosphaturia, and Bisphosphonate Treatment Are Associated With Survival Beyond Infancy in Generalized Arterial Calcification of Infancy 2008
Filter: + ENPP1 + Disease Presentation
Current Opinion in Pharmacology
Can biological calcification occur in the presence of pyrophosphate? 1984
Filter: + ENPP1 + Pathophysiology
