ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2021
Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice.
Article in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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The trial behind it
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Who cites it
26 citing papers in PubMed, 30 citations in OpenAlex.
- When X Does Not Mark the Spot: Autosomal Dominant and Recessive Forms of Renal Hypophosphatemic Rickets and Osteomalacia.Current osteoporosis reports · 2026Review
- Hypophosphatemic rickets: diagnosis and treatment.Archives of endocrinology and metabolism · 2026Review
- The prevalence of ENPP1 deficiency in humans with Ossification of the Posterior Longitudinal Ligament and the preclinical efficacy of ENPP1 enzyme therapy in murine Ossification of the Posterior Longitudinal Ligament.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- Generalized Arterial Calcification of Infancy (GACI): State of the Art and Clinical Perspectives.Journal of cardiovascular development and disease · 2026Review
- The effects of elevated phosphate on the kidney - damaging the gatekeeper.Pflugers Archiv : European journal of physiology · 2026Review
- Six cases ofJBMR plus · 2025Article
- ABCC6 and ANK regulate extracellular homeostasis of pyrophosphate and citrate and affect mineral deposition in bones and soft connective tissues.bioRxiv : the preprint server for biology · 2025Article
- Improvements in hearing loss with bone-targeted enzyme replacement therapy are associated with corrected hypomineralization and osteocyte properties of auditory ossicles in Enpp1-deficient mice.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025Article
- Article
- Association Analysis of ENPP1 Tissue Expression, Polymorphism, and Growth Traits in Xiangsu Pigs.Genes · 2025Article
- Base of Skull & Spinal Canal Narrowing in an Adolescent with Autosomal Recessive Hypophosphatemic Rickets Type 2.Calcified tissue international · 2025Article
- Novel treatment for PXE: Recombinant ENPP1 enzyme therapy.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Article
- A high-calcium environment induced ectopic calcification of renal interstitial fibroblasts via TFPI-2-DCHS1-ALP/ENPP1 axis to participate in Randall's plaque formation.Urolithiasis · 2024Article
- Activation of Nuclear Factor Erythroid 2-Related Factor 2 Transcriptionally Upregulates Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Expression and Inhibits Ectopic Calcification in Mice.Antioxidants (Basel, Switzerland) · 2024Article
- ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency.Annual review of pathology · 2024Review
- Review of childhood genetic nephrolithiasis and nephrocalcinosis.Frontiers in genetics · 2024Review
- Case report: Multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of ENPP1: a case study.Frontiers in cardiovascular medicine · 2023Article
- Approach to Hypophosphatemic Rickets.The Journal of clinical endocrinology and metabolism · 2022Article
- ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.Human mutation · 2022Review
Corrections and comments
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Authors and funding
24 authors at 4 institutions in 2 countries.
Funding
Abstract
Inactivating mutations in human ecto-nucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1) may result in early-onset osteoporosis (EOOP) in haploinsufficiency and autosomal recessive hypophosphatemic rickets (ARHR2) in homozygous deficiency. ARHR2 patients are frequently treated with phosphate supplementation to ameliorate the rachitic phenotype, but elevating plasma phosphorus concentrations in ARHR2 patients may increase the risk of ectopic calcification without increasing bone mass. To assess the risks and efficacy of conventional ARHR2 therapy, we performed comprehensive evaluations of ARHR2 patients at two academic medical centers and compared their skeletal and renal phenotypes with ENPP1-deficient Enpp1
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.