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Year Number of Results
2009 1
2011 1
2012 1
2013 3
2014 2
2015 1
2017 2
2018 1
2019 3
2020 4
2021 2
2022 6
2023 1
2024 4
2025 0

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26 results

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Page 1
ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency.
Ferreira CR, Carpenter TO, Braddock DT. Ferreira CR, et al. Annu Rev Pathol. 2024 Jan 24;19:507-540. doi: 10.1146/annurev-pathmechdis-051222-121126. Epub 2023 Oct 23. Annu Rev Pathol. 2024. PMID: 37871131 Free PMC article. Review.
The enzyme ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) codes for a type 2 transmembrane glycoprotein that hydrolyzes extracellular ATP to generate pyrophosphate (PP(i)) and adenosine monophosphate, thereby contributing to downstream purinergic signaling path …
The enzyme ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) codes for a type 2 transmembrane glycoprotein that hydrolyzes e …
Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management.
Boyce AM, Gafni RI, Ferreira CR. Boyce AM, et al. Curr Osteoporos Rep. 2020 Jun;18(3):232-241. doi: 10.1007/s11914-020-00577-4. Curr Osteoporos Rep. 2020. PMID: 32172442 Free PMC article. Review.
PURPOSE OF REVIEW: This review summarizes current understanding of generalized arterial calcification of infancy (GACI), emphasizing pathophysiology, clinical presentation, and approaches and controversies in management. ...
PURPOSE OF REVIEW: This review summarizes current understanding of generalized arterial calcification of infancy
Generalized Arterial Calcification of Infancy (GACI).
Baujat G, Besançon A. Baujat G, et al. Arch Pediatr. 2024 Sep;31(4S1):4S21-4S26. doi: 10.1016/S0929-693X(24)00153-2. Arch Pediatr. 2024. PMID: 39343469 Review.
Generalized arterial calcification of infancy (GACI) is an ultra-rare autosomal recessive disorder associated with pathogenic variants in ENPP1, the major gene involved in this condition, and in ABCC6, which is involved in a small fraction of affected …
Generalized arterial calcification of infancy (GACI) is an ultra-rare autosomal recessive disorder associated wi …
Longitudinal assessment of vascular calcification in generalized arterial calcification of infancy.
Ramirez-Suarez KI, Cohen SA, Barrera CA, Levine MA, Goldberg DJ, Otero HJ. Ramirez-Suarez KI, et al. Pediatr Radiol. 2022 Nov;52(12):2329-2341. doi: 10.1007/s00247-022-05364-0. Epub 2022 Apr 19. Pediatr Radiol. 2022. PMID: 35438330 Free PMC article. Review.
BACKGROUND: Generalized arterial calcification of infancy (GACI), also known as idiopathic infantile arterial calcification, is a very uncommon genetic disorder characterized by calcifications and stenoses of large- and medium-size arteries that can le …
BACKGROUND: Generalized arterial calcification of infancy (GACI), also known as idiopathic infantile arterial ca …
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Nitschke Y, Rutsch F. Nitschke Y, et al. Curr Osteoporos Rep. 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. Curr Osteoporos Rep. 2017. PMID: 28585220 Review.
Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pse …
Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased ext …
Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel.
Rutsch F, Nitschke Y, Terkeltaub R. Rutsch F, et al. Circ Res. 2011 Aug 19;109(5):578-92. doi: 10.1161/CIRCRESAHA.111.247965. Circ Res. 2011. PMID: 21852556 Free PMC article. Review.
Monogenic ENPP1, CD73, and ABCC6 deficiencies each drive a molecular pathophysiology of closely related but phenotypically different diseases (generalized arterial calcification of infancy (GACI), pseudoxanthoma elasticum (PXE) and arterial calcificati …
Monogenic ENPP1, CD73, and ABCC6 deficiencies each drive a molecular pathophysiology of closely related but phenotypically different disease …
Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases.
Chunn LM, Bissonnette J, Heinrich SV, Mercurio SA, Kiel MJ, Rutsch F, Ferreira CR. Chunn LM, et al. Orphanet J Rare Dis. 2022 Dec 2;17(1):421. doi: 10.1186/s13023-022-02577-2. Orphanet J Rare Dis. 2022. PMID: 36461014 Free PMC article. Review.
BACKGROUND: ENPP1 Deficiency-caused by biallelic variants in ENPP1-leads to widespread arterial calcification in early life (Generalized Arterial Calcification of Infancy, GACI) or hypophosphatemic rickets in later life (Autosomal Recessive Hypophospha …
BACKGROUND: ENPP1 Deficiency-caused by biallelic variants in ENPP1-leads to widespread arterial calcification in early life (Generalized …
ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions.
Shimada BK, Pomozi V, Zoll J, Kuo S, Martin L, Le Saux O. Shimada BK, et al. Int J Mol Sci. 2021 Apr 27;22(9):4555. doi: 10.3390/ijms22094555. Int J Mol Sci. 2021. PMID: 33925341 Free PMC article. Review.
ABCC6 dysfunction is the primary cause of PXE, but also some cases of generalized arterial calcification of infancy (GACI). ABCC6 deficiency in mice underlies an inducible dystrophic cardiac calcification phenotype (DCC). ...
ABCC6 dysfunction is the primary cause of PXE, but also some cases of generalized arterial calcification of infancy
Inorganic Pyrophosphate Deficiency Syndromes and Potential Treatments for Pathologic Tissue Calcification.
Ralph D, van de Wetering K, Uitto J, Li Q. Ralph D, et al. Am J Pathol. 2022 May;192(5):762-770. doi: 10.1016/j.ajpath.2022.01.012. Epub 2022 Feb 16. Am J Pathol. 2022. PMID: 35182493 Free PMC article. Review.
This review presents an overview of the pathophysiology of five monogenic disorders of pathologic calcification: pseudoxanthoma elasticum, generalized arterial calcification of infancy, arterial calcification due to deficiency of CD73, ankylosis, and p …
This review presents an overview of the pathophysiology of five monogenic disorders of pathologic calcification: pseudoxanthoma elasticum, g …
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency.
Höppner J, Kornak U, Sinningen K, Rutsch F, Oheim R, Grasemann C. Höppner J, et al. Bone. 2021 Dec;153:116111. doi: 10.1016/j.bone.2021.116111. Epub 2021 Jul 9. Bone. 2021. PMID: 34252603 Free article. Review.
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a rare form of hypophosphatemic rickets, which is known to develop in survivors of generalized arterial calcification of infancy (GACI). Both disorders are based on a deficiency of ectonucl …
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a rare form of hypophosphatemic rickets, which is known to develop in survivo …
26 results