Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

ENPP1 enzyme replacement therapy improves blood pressure and cardiovascular function in a mouse model of generalized arterial calcification of infancy

29 Aug 2018

Abstract excerpt

ABSTRACT Generalized arterial calcification of infancy (GACI) is a rare, life-threatening disorder caused by loss-of-function mutations in the gene encoding ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP1), which normally hydrolyzes extracellular ATP into AMP and pyrophosphate (PPi). The disease is characterized by extensive arterial calcification and stenosis of large- and medium-sized vessels, leading...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alkaline Phosphatase Research Studies
Share to Dermatological and Skeletal Disorders
Share to Parathyroid Disorders and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30158213
DOI: 10.1242/dmm.035691

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ENPP1 enzyme replacement therapy improves blood pressure and cardiovascular function in a mouse model of generalized arterial calcification of infancyPMID 30158213Read ↗

Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy.Semantic proximity Read ↗

Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management.Semantic proximity Read ↗

Effects of etidronate on the Enpp1⁻/⁻ mouse model of generalized arterial calcification of infancy.Semantic proximity Read ↗

Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2Semantic proximity Read ↗

Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy.Semantic proximity Read ↗

Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report.Semantic proximity Read ↗

Molecular diagnosis of generalized arterial calcification of infancy (GACI)Semantic proximity Read ↗

Genetics in arterial calcification: lessons learned from rare diseases.Semantic proximity Read ↗

Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy.Semantic proximity Read ↗

Prenatal diagnosis of generalized arterial calcification of infancy in the second trimesterSemantic proximity Read ↗

Novel ENPP1 Gene Mutation Causing Generalized Arterial Calcification of Infancy: A case report.Semantic proximity Read ↗

Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.