Rutsch F, Boyer P, Nitschke Y et al (2008) Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ Cardiovasc Genet 1(2):133–140

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ruf N, Uhlenberg B, Terkeltaub R, Nurnberg P, Rutsch F (2005) The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). Hum Mutat 25(1):98

Article  PubMed  Google Scholar 

Eytan O, Morice-Picard F, Sarig O, Ezzedine K, Isakov O, Li Q, Sprecher E (2013) Cole disease results from mutations in ENPP1. Am J Human Genet 93(4):752–757. https://doi.org/10.1016/j.ajhg.2013.08.007

Article  CAS  Google Scholar 

Meyre D, Bouatia-Naji N, Tounian A, Samson C, Lecoeur C, Vatin V, Froguel P (2005) Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes. Nat Genet 37(8):863–867. https://doi.org/10.1038/ng1604

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chunn LM, Bissonnette J, Heinrich SV, Mercurio SA, Kiel MJ, Rutsch F, Ferreira CR (2022) Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases. Orphanet J Rare Dis 17(1):421. https://doi.org/10.1186/s13023-022-02577-2

Article  PubMed  PubMed Central  Google Scholar 

Ferreira CR, Hackbarth ME, Ziegler SG et al (2021) Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI). Genet Med 23(2):396–407

Article  CAS  PubMed  Google Scholar 

Goding JW, Grobben B, Slegers H (2003) Physiological and pathophysiological functions of the ecto-nucleotide pyrophosphatase/phosphodiesterase family. Biochim Biophys Acta 1638(1):1–19

Article  CAS  PubMed  Google Scholar 

Albayrak G, Silistreli E, Ergur B et al (2015) Inhibitory effect of adenosine on intimal hyperplasia and proliferation of smooth muscle cells in a carotid arterial anastomosis animal model. Vascular 23(2):124–131

Article  CAS  PubMed  Google Scholar 

Maulding ND, Kavanagh D, Zimmerman K, Coppola G, Carpenter TO, Jue NK, Braddock DT (2021) Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization. Bone 142:115656. https://doi.org/10.1016/j.bone.2020.115656

Article  CAS  PubMed  Google Scholar 

Vervloet M (2019) Renal and extrarenal effects of fibroblast growth factor 23. Nat Rev Nephrol 15(2):109–120. https://doi.org/10.1038/s41581-018-0087-2

Article  CAS  PubMed  Google Scholar 

Caldemeyer KS, Boaz JC, Wappner RS, Moran CC, Smith RR, Quets JP (1995) Chiari I malformation: association with hypophosphatemic rickets and MR imaging appearance. Radiology 195(3):733–738. https://doi.org/10.1148/radiology.195.3.7754003

Article  CAS  PubMed  Google Scholar 

Stovner U, Bergan U, Nilsen C, Sjaastad O (1993) Posterior cranial fossa dimensions in the Chiari I malformation: relation to patho genesis and clinical presentation. Neurora- diology 35:113

Article  CAS  Google Scholar 

Tubbs RS, Webb D, Abdullatif H, Conklin M, Doyle S, Oakes WJ (2004) Posterior cranial fossa volume in patients with rickets: insights into the increased occurrence of Chiari I malformation in metabolic bone disease. Neurosurgery 55(2):380–383. https://doi.org/10.1227/01.neu.0000129547.30778.b7

Article  PubMed  Google Scholar 

Rothenbuhler A, Fadel N, Debza Y et al (2019) High incidence of cranial synostosis and Chiari I malformation in children with X-linked hypophosphatemic rickets (XLHR). J Bone Miner Res 34(3):490–496. https://doi.org/10.1002/jbmr.3614

Article  CAS  PubMed  Google Scholar 

Höppner J, Kornak U, Sinningen K, Rutsch F, Oheim R, Grasemann C (2021) Autosomal recessive hypophosphatemic rickets type 2 (Arhr2) due to Enpp1-deficiency. Bone 153:116111. https://doi.org/10.1016/j.bone.2021.116111

Article  CAS  PubMed  Google Scholar 

Badie B, Mendoza D, Batzdorf U (1995) Posterior fossa volume and response to suboccipital decompression in patients with Chiari I malformation. Neurosurgery 37:214–218

Article  CAS  PubMed  Google Scholar 

Nishikawa M, Sakamoto H, Hakuba A, Nakanishi N, Inoue Y (1997) Pathogenesis of Chiari malformation: a morphometric study of the posterior cranial fossa. J Neurosurg 86:40–47

Article  CAS  PubMed  Google Scholar 

Menezes AH, Ryken TC (1994) Abnormalities of the craniocervical junction. In: Check WR, Marling AE (eds) Pediatric neurosurgery: surgery of the developing nervous system. W.B. Saunders Co., Philadelphia, pp 139–158

Google Scholar 

https://gnomad.broadinstitute.org/gene/ENSG00000197594?dataset=gnomad_r4

Ferreira CR et al (2021) Response of the ENPP1-deficient skeletal phenotype to oral phosphate supplementation and/or enzyme replacement therapy: comparative studies in humans and mice. J Bone Miner Res 36(5):942–955

Article  CAS  PubMed  Google Scholar