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Quoted phrase not found in phrase index: "Arterial calcification, generalized, of infancy, 1"
Page 1
Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI).
Theng EH, Brewer CC, Oheim R, Zalewski CK, King KA, Delsmann MM, Rolvien T, Gafni RI, Braddock DT, Jeffrey Kim H, Ferreira CR. Theng EH, et al. Orphanet J Rare Dis. 2022 Jul 19;17(1):273. doi: 10.1186/s13023-022-02410-w. Orphanet J Rare Dis. 2022. PMID: 35854274 Free PMC article.
BACKGROUND AND IMPORTANCE: Hearing loss (HL) has been sporadically described, but not well characterized, in Generalized Arterial Calcification of Infancy (GACI), a rare disease in which pathological calcification typically presents in infancy. ...
BACKGROUND AND IMPORTANCE: Hearing loss (HL) has been sporadically described, but not well characterized, in Generalized Arterial …
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 …
Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
Ferreira CR, Kintzinger K, Hackbarth ME, Botschen U, Nitschke Y, Mughal MZ, Baujat G, Schnabel D, Yuen E, Gahl WA, Gafni RI, Liu Q, Huertas P, Khursigara G, Rutsch F. Ferreira CR, et al. J Bone Miner Res. 2021 Nov;36(11):2193-2202. doi: 10.1002/jbmr.4418. Epub 2021 Aug 16. J Bone Miner Res. 2021. PMID: 34355424 Free PMC article.
Generalized arterial calcification of infancy (GACI) is a rare disorder caused by ENPP1 or ABCC6 variants. ...
Generalized arterial calcification of infancy (GACI) is a rare disorder caused by ENPP1 or ABCC6 variants. ...
Effects of food, fasting, and exercise on plasma pyrophosphate levels and ENPP1 activity in healthy adults.
Khursigara G, Huertas P, Wenkert D, O'Brien K, Sabbagh Y. Khursigara G, et al. Bone. 2023 Jun;171:116750. doi: 10.1016/j.bone.2023.116750. Epub 2023 Mar 30. Bone. 2023. PMID: 37003563 Free article.
METHODS: In this single-center trial, a clinical laboratory improvement amendment (CLIA) validated modified sulfurylase-based adenosine 5-triphosphate (ATP) assay was used to measure PP(i) levels throughout the day in 10 healthy adults under 3 conditions; normal diet (non-fasting …
METHODS: In this single-center trial, a clinical laboratory improvement amendment (CLIA) validated modified sulfurylase-based adenosine 5-tr …
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.
Loss-of-function variants in the ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) cause ENPP1 Deficiency, a rare disorder characterized by pathological calcification, neointimal proliferation, and impaired bone mineralization. ...
Loss-of-function variants in the ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) cause ENPP1 Deficiency, a r …
Generalized arterial calcification of infancy.
Karthikeyan G. Karthikeyan G. J Pediatr. 2013 May;162(5):1074.e1. doi: 10.1016/j.jpeds.2012.11.015. Epub 2012 Dec 12. J Pediatr. 2013. PMID: 23245193 No abstract available.
Antenatal diagnosis of idiopathic arterial calcification: a systematic review with a report of two cases.
Mastrolia SA, Weintraub AY, Baron J, Sciaky-Tamir Y, Koifman A, Loverro G, Hershkovitz R. Mastrolia SA, et al. Arch Gynecol Obstet. 2015 May;291(5):977-86. doi: 10.1007/s00404-014-3567-z. Epub 2014 Dec 19. Arch Gynecol Obstet. 2015. PMID: 25524533 Review.
The majority of the affected infants die before the age of 6 months, and very few have survived for more than 1 year. Five cases of spontaneous resolution of the disease are described. ...
The majority of the affected infants die before the age of 6 months, and very few have survived for more than 1 year. Five cases of s …
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Moore AR, Yu J, Pei Y, Cheng EWY, Taylor Tavares AL, Walker WT, Thomas NS, Kamath A, Ibitoye R, Josifova D, Wilsdon A, Ross A, Calder AD, Offiah AC, Wilkie AOM; Genomics England Research Consortium; Taylor JC, Pagnamenta AT. Moore AR, et al. J Med Genet. 2023 Nov 27;60(12):1235-1244. doi: 10.1136/jmg-2023-109362. J Med Genet. 2023. PMID: 37558402 Free PMC article.
METHODS: To investigate the 31 families with available data that remained unsolved following formal review within the 100kGP, SVRare was used to aggregate structural variants present in <1% of 100kGP participants. Small variants were assessed using population allele fre …
METHODS: To investigate the 31 families with available data that remained unsolved following formal review within the 100kGP, SVRare was use …
Generalized arterial calcification of infancy associated with meconium peritonitis: a case report and review of the literature.
Sawyer T, Stacey M, Mulreany M, Thompson M, Nitschke Y, Rutsch F, Mahnke CB. Sawyer T, et al. Am J Perinatol. 2009 Nov;26(10):711-6. doi: 10.1055/s-0029-1223282. Epub 2009 May 18. Am J Perinatol. 2009. PMID: 19452427 Review.
Generalized arterial calcification of infancy (GACI) is a rare genetic disorder consisting of diffuse arterial calcification and intimal proliferation. ...
Generalized arterial calcification of infancy (GACI) is a rare genetic disorder consisting of diffuse arterial c …
26 results