Optimizing diagnosis and management of patients with ENPP1 deficiency: an expert opinion.

Multi-State Structural Genomics Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.

Phenotypic Diversity in Autosomal Recessive Hypophosphatemic Rickets Type 2.

Successful bridge to diagnosis: Extracorporeal life support in generalized arterial calcification of infancy.

REACT-PXE: a consensus on diagnosis and future research concerning pseudoxanthoma elasticum (PXE).

Successful PCI for advanced coronary stenoses of a generalized arterial calcification of infancy (GACI) survivor.

Six cases of ENPP1 pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy.

Lipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies.

Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis.

Prenatal Diagnosis and Management of Generalized Arterial Calcification of Infancy.

Unique, Early Prenatal Presentation of Generalized Arterial Calcification of Infancy.

A Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.

Improvements in hearing loss with bone-targeted enzyme replacement therapy are associated with corrected hypomineralization and osteocyte properties of auditory ossicles in Enpp1-deficient mice.

Prenatal Diagnosis and 10-Year Follow-up of Type-II Generalized Arterial Calcification of the Infancy.

A Case of Pediatric Atypical Pseudoxanthoma Elasticum.

Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2.

A severe ABCC6 -induced generalized arterial calcification of infancy overshadowed by the EGFR -associated neonatal inflammatory skin and bowel disease 2 in a Roma girl.

Generalized arterial calcification of infancy - Fetal diagnosis to postnatal management.

Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy.

An inducible model for medial calcification based on matrix Gla protein deficiency.

Preterm Infant with Generalized Arterial Calcification of Infancy Who Survived Due to Early Diagnosis and Appropriate Treatment with Bisphosphonates: A Case Report.

Clinical presentation and burden of ENPP1 deficiency in adults.

Biology of bone mineralization and ectopic calcifications: the same actors for different plays.

Autosomal recessive hypophosphatemic rickets type 2 due to ENPP1 deficiency (ARHR2).

Generalized Arterial Calcification of Infancy (GACI).

Inherited phosphate and pyrophosphate disorders: New insights and novel therapies changing the oral health landscape.

Inhibition of Vascular Smooth Muscle Cell Proliferation by ENPP1: The Role of CD73 and the Adenosine Signaling Axis.

Generalized Arterial Calcification of Infancy Mimicking Coarctation of Aorta in a Neonate.

[Genetic analysis of a child with Generalized arterial calcification of infancy due to variant of ABCC6 gene].

Bone Marrow-Derived ABCC6 Is an Essential Regulator of Ectopic Calcification In Pseudoxanthoma Elasticum.

Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2.

The use of burosumab to treat autosomal-recessive hypophosphatemic rickets type 2: rationale and a first clinical experience.

A case of fetal hydrops caused by generalized arterial calcification of infancy.

Clinical and Molecular Characterization of a Patient with Generalized Arterial Calcification of Infancy Caused by Rare ABCC6 Mutation.

ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency.

Generalized arterial calcification of infancy in a neonate with acute kidney injury: A rare case report.

Twin-twin transfusion syndrome recipient with arterial calcification and heterozygous variant in ABCC6: Evidence of a gene-environment interaction?

Effects of food, fasting, and exercise on plasma pyrophosphate levels and ENPP1 activity in healthy adults.

Case report: A rare homozygous variation in the ENPP1 gene, presenting with generalized arterial calcification of infancy in a Chinese infant.

Severe early-onset manifestations of generalized arterial calcification of infancy (mimicking severe coarctation of the aorta) with ABCC6 gene variant - Case report and literature review.

Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases.

Massive Dilatation of the Ascending Aorta in a Patient With Generalized Arterial Calcification of Infancy.

An Unusual Case of Transient Cardiac Calcification Identified on Antenatal Echocardiography: A Generalized Arterial Calcification of Infancy (GACI) Like Presentation.

Prenatal diagnosis of generalized arterial calcification of infancy in the second trimester.

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

Case Report: Coexistence of generalized arterial calcification of infancy (GACI) and maternal infections with cytomegalovirus and Toxoplasma gondii-unexpected fatal complication in a newborn.

Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI).

Catalysis-Independent ENPP1 Protein Signaling Regulates Mammalian Bone Mass.

Serum biomarkers for arterial calcification in humans: A systematic review.

Generalized Arterial Calcification of Infancy (GACI): Optimizing Care with a Multidisciplinary Approach.

Disorders of phosphate homeostasis in children, part 1: primer on mineral ion homeostasis and the roles of phosphate in skeletal biology.

ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.

Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.

Longitudinal assessment of vascular calcification in generalized arterial calcification of infancy.

Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early-Onset Osteoporosis.

Inorganic Pyrophosphate Deficiency Syndromes and Potential Treatments for Pathologic Tissue Calcification.

Case Report: A Novel Genetic Mutation Causes Idiopathic Infantile Arterial Calcification in Preterm Infants.

Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum.

A Reference Range for Plasma Levels of Inorganic Pyrophosphate in Children Using the ATP Sulfurylase Method.

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency.

Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser)).

Correspondence on "Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)" by Ferreira et al.

ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions.

INZ-701 Prevents Ectopic Tissue Calcification and Restores Bone Architecture and Growth in ENPP1-Deficient Mice.

Generalized Arterial Calcification of Infancy.

Therapeutics Development for Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders: Update 2020.

Creation of the first monoclonal antibody recognizing an extracellular epitope of hABCC6.

From membrane to mineralization: the curious case of the ABCC6 transporter.

Improving the Pharmacodynamics and In Vivo Activity of ENPP1-Fc Through Protein and Glycosylation Engineering.

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).

Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization.

Neonatal myocardial ischemia and calcifications. Report of a case of generalized arterial calcification of infancy.

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

Reversion of arterial calcification by elastin-targeted DTPA-HSA nanoparticles.

Hyperphosphatemia with low FGF7 and normal FGF23 and sFRP4 levels in the circulation characterizes pediatric hypophosphatasia.

Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?

Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations.

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

Severe early-onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement in ectopic calcification with sodium thiosulfate.

No vascular calcification on cardiac computed tomography spanning asfotase alfa treatment for an elderly woman with hypophosphatasia.

Endogenous Calcification Inhibitors in the Prevention of Vascular Calcification: A Consensus Statement From the COST Action EuroSoftCalcNet.

Adenovirus-Mediated ABCC6 Gene Therapy for Heritable Ectopic Mineralization Disorders.

Magnesium and Anti-phosphate Treatment with Bisphosphonates for Generalised Arterial Calcification of Infancy: A Case Report.

Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development.

ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP.

Bisphosphonate therapy in an infant with generalized arterial calcification with an ABCC6 mutation.

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

Etidronate prevents, but does not reverse, ectopic mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/- ).

Coronary pathology of inherited generalized arterial calcification of infancy: a case report.

Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report.

Hypercementosis Associated with ENPP1 Mutations and GACI.

[Homozygous ectonucleotide pyrophosphatase/phosphodiesterase 1 variants in a girl with hypophosphatemic rickets and literature review].

Oral administration of pyrophosphate inhibits connective tissue calcification.

Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.

Pyrophosphate Supplementation Prevents Chronic and Acute Calcification in ABCC6-Deficient Mice.

Elevated dietary magnesium during pregnancy and postnatal life prevents ectopic mineralization in Enpp1asj mice, a model for generalized arterial calcification of infancy.

Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium-2016.

Ectopic Mineralization and Conductive Hearing Loss in Enpp1asj Mutant Mice, a New Model for Otitis Media and Tympanosclerosis.

Variable patterns of ectopic mineralization in Enpp1asj-2J mice, a model for generalized arterial calcification of infancy.

Functional Rescue of ABCC6 Deficiency by 4-Phenylbutyrate Therapy Reduces Dystrophic Calcification in Abcc6-/- Mice.

[Positron emission tomography/computed tomography for diagnosing a rare genetic disease in an infant].

Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.

Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.

Generalized Arterial Calcification in a Recipient Twin: Discordant Fetal Hemodynamics Result in Differing Phenotypes in Monozygotic Twins with an ABCC6 Mutation.

Ectopic mineralization of cartilage and collagen-rich tendons and ligaments in Enpp1asj-2J mice.

Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders.

Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.

Dual Effects of Bisphosphonates on Ectopic Skin and Vascular Soft Tissue Mineralization versus Bone Microarchitecture in a Mouse Model of Generalized Arterial Calcification of Infancy.

Two newborn babies with generalized arterial calcification of infancy, two new mutations.

ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy.

Hypophosphatemic rickets developed after treatment with etidronate disodium in a patient with generalized arterial calcification in infancy.

From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders.

Generalized arterial calcification of infancy--Findings at post-mortem computed tomography and autopsy.

Effects of etidronate on the Enpp1⁻/⁻ mouse model of generalized arterial calcification of infancy.

Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.

The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene.