Response of the ENPP1 ‐Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice-Reference-Cited by-同舟云学术

Response of the ENPP1 ‐Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice

Published:2021-02-18 Issue:5 Volume:36 Page:942-955
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Ferreira Carlos R¹^ORCID,Kavanagh Dillon²,Oheim Ralf³,Zimmerman Kristin²,Stürznickel Julian³^ORCID,Li Xiaofeng²,Stabach Paul²,Rettig R Luke²,Calderone Logan²,MacKichan Colin²,Wang Aaron²,Hutchinson Hunter A²,Nelson Tracy⁴,Tommasini Steven M⁴,Kroge Simon³,Fiedler Imke AK³,Lester Ethan R²,Moeckel Gilbert W²,Busse Björn³^ORCID,Schinke Thorsten³^ORCID,Carpenter Thomas O⁵,Levine Michael A⁶⁷^ORCID,Horowitz Mark C⁴,Braddock Demetrios T²^ORCID

Affiliation:

1. Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda MD USA

2. Department of Pathology Yale University School of Medicine New Haven CT USA

3. Department of Osteology and Biomechanics University Medical Center Hamburg‐Eppendorf Hamburg Germany

4. Department of Orthopaedics and Rehabilitation Yale University School of Medicine New Haven CT USA

5. Department of Pediatrics Yale University School of Medicine New Haven CT USA

6. Department of Pediatrics University of Pennsylvania Perlman School of Medicine Philadelphia PA USA

7. Division of Endocrinology and Diabetes and Center for Bone Health The Children's Hospital of Philadelphia Philadelphia PA USA

Funder

NIH Clinical Center

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jbmr.4254

Reference41 articles.

1. Idiopathic Infantile Arterial Calcification: The Spectrum of Clinical Presentations

2. Hypophosphatemia, Hyperphosphaturia, and Bisphosphonate Treatment Are Associated With Survival Beyond Infancy in Generalized Arterial Calcification of Infancy

3. PC-1 Nucleoside Triphosphate Pyrophosphohydrolase Deficiency in Idiopathic Infantile Arterial Calcification

4. Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

5. Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum

Cited by 19 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Quantitative correlation of ENPP1 pathogenic variants with disease phenotype;Bone;2024-09

2. 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;2024-08-28

3. Activation of Nuclear Factor Erythroid 2-Related Factor 2 Transcriptionally Upregulates Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Expression and Inhibits Ectopic Calcification in Mice;Antioxidants;2024-07-24

4. Review of childhood genetic nephrolithiasis and nephrocalcinosis;Frontiers in Genetics;2024-03-28

5. Insight into small-molecule inhibitors targeting extracellular nucleotide pyrophosphatase/phosphodiesterase1 for potential multiple human diseases;European Journal of Medicinal Chemistry;2024-03