Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2013 1
2014 1
2017 1
2018 1
2019 2
2020 2
2021 1
2022 5
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

12 results

Results by year

Filters applied: . Clear all
Page 1
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 …
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, pseudoxant …
Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellu …
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 …
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.
Awareness for hypophosphatemic rickets has increased in the last years, based on the availability of specific medical treatments. Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a rare form of hypophosphatemic rickets, which is known to develop in survivors …
Awareness for hypophosphatemic rickets has increased in the last years, based on the availability of specific medical treatments. Autosomal …
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 …
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
Ralph D, Levine MA, Richard G, Morrow MM, Flynn EK, Uitto J, Li Q. Ralph D, et al. Hum Mutat. 2022 Sep;43(9):1183-1200. doi: 10.1002/humu.24391. Epub 2022 May 18. Hum Mutat. 2022. PMID: 35475527 Free PMC article. Review.
In this mutation update, we provide a comprehensive review of all the pathogenic variants, likely pathogenic variants, and variants of unknown significance in ENPP1 associated with three autosomal recessive disorders-generalized arterial calcification of i …
In this mutation update, we provide a comprehensive review of all the pathogenic variants, likely pathogenic variants, and variants of unkno …
ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.
Mercurio SA, Chunn LM, Khursigara G, Nester C, Wray K, Botschen U, Kiel MJ, Rutsch F, Ferreira CR. Mercurio SA, et al. Hum Mutat. 2022 Dec;43(12):1673-1705. doi: 10.1002/humu.24477. Epub 2022 Oct 8. Hum Mutat. 2022. PMID: 36150100 Review.
The consequence of ENPP1 Deficiency is a broad range of age dependent symptoms and morbidities including cardiovascular complications and 50% mortality in infants, autosomal recessive hypophosphatemic rickets type 2 (ARHR2) in children, and joint pain, osteomalacia and ent …
The consequence of ENPP1 Deficiency is a broad range of age dependent symptoms and morbidities including cardiovascular complications and 50 …
Disorders of phosphate homeostasis in children, part 1: primer on mineral ion homeostasis and the roles of phosphate in skeletal biology.
Shore RM. Shore RM. Pediatr Radiol. 2022 Nov;52(12):2278-2289. doi: 10.1007/s00247-022-05374-y. Epub 2022 May 10. Pediatr Radiol. 2022. PMID: 35536415 Review.
Part 1 includes phosphate-related disorders of mineralization for which overall circulating mineral ion homeostasis remains normal. Part 2 covers hypophosphatemic and hyperphosphatemic disorders, emphasizing, but not limited to, those related to increased and decreased FGF …
Part 1 includes phosphate-related disorders of mineralization for which overall circulating mineral ion homeostasis remains normal. Part …
Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development.
Li Q, van de Wetering K, Uitto J. Li Q, et al. Am J Pathol. 2019 Feb;189(2):216-225. doi: 10.1016/j.ajpath.2018.09.014. Epub 2018 Nov 7. Am J Pathol. 2019. PMID: 30414410 Free PMC article. Review.
The prototype of such disorders is pseudoxanthoma elasticum (PXE), a late-onset, slowly progressing disorder with multisystem clinical manifestations. Other conditions include generalized arterial calcification of infancy (GACI), characterized by sever …
The prototype of such disorders is pseudoxanthoma elasticum (PXE), a late-onset, slowly progressing disorder with multisystem clinical manif …
12 results