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

doi:10.1002/jbmr.4254

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

Community

Back to search

Article

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

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 May 2021

Ferreira Carlos R, Kavanagh Dillon, Oheim Ralf, Zimmerman Kristin, Stürznickel Julian, Li Xiaofeng, Stabach Paul, Rettig R Luke, Calderone Logan, MacKichan Colin, Wang Aaron, Hutchinson Hunter A, Nelson Tracy, Tommasini Steven M, von Kroge Simon, Fiedler Imke Ak, Lester Ethan R, Moeckel Gilbert W, Busse Björn, Schinke Thorsten, Carpenter Thomas O, Levine Michael A, Horowitz Mark C, Braddock Demetrios T

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dietary Supplements

Share to Enzyme Replacement Therapy

Share to Mice

Share to Phenotype

Share to Phosphates

Share to Phosphoric Diester Hydrolases

Share to Pyrophosphatases

Source

Open in PubMed Open full text

Identifiers

PMID: 33465815
DOI: 10.1002/jbmr.4254
PMCID: PMC8739051

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice.PMID 33465815Read ↗

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

Autosomal recessive hypophosphatemic rickets type 2 due to ENPP1 deficiency (ARHR2).Semantic proximity Read ↗

Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early-Onset OsteoporosisSemantic proximity Read ↗

Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese GirlSemantic proximity Read ↗

Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene.Semantic proximity Read ↗

Clinical presentation and burden of ENPP1 deficiency in adults.Semantic proximity Read ↗

Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets.Semantic proximity Read ↗

ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.Semantic proximity Read ↗

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.Semantic proximity Read ↗

[Autosomal recessive hypophosphatemic rickets/osteomalacia caused by a novel mutation in the DMP1 gene: a case report and literature review].Semantic proximity Read ↗

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

Phenotypic diversity in autosomal recessive hypophosphatemic rickets type 2.Semantic proximity Read ↗

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