ArticleDiagnostics (Basel, Switzerland)2021
Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser)).
Article in Diagnostics (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 5 citations in OpenAlex.
- Optimizing diagnosis and management of patients with ENPP1 deficiency: an expert opinion.Journal of endocrinological investigation · 2026Review
- Perinatal Diagnosis of Generalized Arterial Calcification of Infancy: First Genetically Confirmed ENPP1 Case in an Egyptian Fetus.Journal, genetic engineering & biotechnology · 2026Article
- Case Report: Delivery or not, generalized arterial calcification of infancy in China.Frontiers in medicine · 2026Article
- Preterm Infant with Generalized Arterial Calcification of Infancy Who Survived Due to Early Diagnosis and Appropriate Treatment with Bisphosphonates: A Case Report.Children (Basel, Switzerland) · 2024Article
- Generalized arterial calcification of infancy in a neonate with acute kidney injury: A rare case report.Radiology case reports · 2023Article
- Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.Human mutation · 2022Review
- Severe early-onset manifestations of generalized arterial calcification of infancy (mimicking severe coarctation of the aorta) withFrontiers in cardiovascular medicine · 2022Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Generalized Arterial Calcification of Infancy (GACI) is a rare disease inherited in a recessive manner, with severe and diffuse early onset of calcifications along the internal elastic lamina in large and medium size arteries. The diagnosis results are from clinical manifestations, imaging, histopathologic exams, and genetic tests. GACI is predominantly caused by biallelic pathogenic variant in the
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