Evidence map›Paper›PMID 32172442›Full record

ReviewCurrent osteoporosis reports2020

Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management.

Alison M Boyce, Rachel I Gafni, Carlos R Ferreira

Open access · greenAbstract readReview
In one paragraph

Review in Current osteoporosis reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
3.4field-weighted citation impact, top 8% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

28 citing papers in PubMed, 37 citations in OpenAlex.

  1. Review
  2. Article
  3. Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a NovelJournal of clinical research in pediatric endocrinology · 2026
    Article
  4. Review
  5. Article
  6. Six cases ofJBMR plus · 2025
    Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Review
  12. Article
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  15. Article
  16. Article
  17. Article
  18. Review
  19. Case report: A rare homozygous variation in theFrontiers in cardiovascular medicine · 2023
    Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 2 institutions in 1 country.

Alison M BoyceSkeletal Diseases and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive Room 218 MSC 4320, Bethesda, MD, 20892, USA. boyceam@mail.nih.gov.
Rachel I GafniSkeletal Diseases and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive Room 218 MSC 4320, Bethesda, MD, 20892, USA.
Carlos R FerreiraMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
National Institute of Dental and Craniofacial Research · USNational Human Genome Research Institute · US

Funding

Skeletal GenomicsZIAHG200407 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI FERREIRA, CARLOS · 2020 to 2024
$3.7M
Intramural NIH HHS Z99 DE999999
6 · The paper itself

Abstract

purpose of reviewThis review summarizes current understanding of generalized arterial calcification of infancy (GACI), emphasizing pathophysiology, clinical presentation, and approaches and controversies in management. RECENT

findingsIdentification of causative ENPP1 mutations revealed that GACI arises from deficiencies in inorganic pyrophosphate (leading to calcifications) and adenosine monophosphate (leading to intimal proliferation). Identification of genotypic and phenotypic overlap with pseudoxanthoma elasticum and autosomal recessive hypophosphatemic rickets further advanced understanding of GACI as a complex, multisystemic disease. Clinical data is limited to small, retrospective samples; it is therefore unknown whether commonly used medications, such as bisphosphonates and hypophosphatemia treatment, are therapeutic or potentially harmful. ENPP1-Fc replacement represents a promising approach warranting further study. Knowledge gaps in natural history place clinicians at high risk of assigning causality to interventions that are correlated with changes in clinical status. There is thus a critical need for improved natural history studies to develop and test targeted therapies.

Indexed as

Adenosine MonophosphateATP-Binding Cassette, Sub-Family C ProteinsBone Density Conservation AgentsCalcinosisCardiovascular AgentsChelating AgentsDiphosphatesDiphosphonatesFamilial Hypophosphatemic RicketsGenotypeHearing LossHumansPhenotypePhosphoric Diester HydrolasesPseudoxanthoma ElasticumPyrophosphatasesABCC6 protein, humanAdenosine MonophosphateATP-Binding Cassette, Sub-Family C ProteinsBone Density Conservation AgentsCardiovascular AgentsChelating AgentsDiphosphatesDiphosphonatesdiphosphoric acidectonucleotide pyrophosphatase phosphodiesterase 1Phosphoric Diester HydrolasesPyrophosphatasessodium thiosulfateThiosulfatesVitamin DABCC6ENPP1Fibroblast growth factor 23Metabolic bone disease

Identifiers

PMID32172442
PMCPMC9506683
OpenAlexW3011586855

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.