Associated Papers
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2): Is phosphate supplementation safe?
Munteanu M et al.
Bone, 2026
Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy.
Noor Ul Ayan H et al.
Bmc Pediatrics, 2024
Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2.
Dursun F et al.
Clinical Endocrinology, 2024
ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.
Mercurio SA et al.
Human Mutation, 2022
An Unusual Case of Transient Cardiac Calcification Identified on Antenatal Echocardiography: A Generalized Arterial Calcification of Infancy (GACI) Like Presentation.
Suntharesan J et al.
Calcified Tissue International, 2022
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
Ralph D et al.
Human Mutation, 2022
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Ferreira CR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33005041 (PubMed )
Supplement: NIHMS1634645-supplement-Table_S1.xlsx › Known_pathogenic
Magnesium and Anti-phosphate Treatment with Bisphosphonates for Generalised Arterial Calcification of Infancy: A Case Report
Dursun F et al.
Journal of Clinical Research in Pediatric Endocrinology, 2019
Cole Disease Results from Mutations in ENPP1.
Eytan O et al.
American Journal of Human Genetics, 2013
Crystal structure of Enpp1, an extracellular glycoprotein involved in bone mineralization and insulin signaling.
Kato K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.
Rutsch F et al.
Circulation. Cardiovascular Genetics, 2008
The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).
Ruf N et al.
Human Mutation, 2005
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
Rutsch F et al.
Nature Genetics, 2003
Select a paper to view details