185 related articles for article (PubMed ID: 25367056)
1. Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy.
Giovannoni I; Callea F; Travaglini L; Amodeo A; Cogo P; Secinaro A; Bizzarri C; Cutrera R; El Hachem M; Francalanci P
Eur J Pediatr; 2014 Dec; 173(12):1735-40. PubMed ID: 25367056
[TBL] [Abstract][Full Text] [Related]
2. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Nitschke Y; Baujat G; Botschen U; Wittkampf T; du Moulin M; Stella J; Le Merrer M; Guest G; Lambot K; Tazarourte-Pinturier MF; Chassaing N; Roche O; Feenstra I; Loechner K; Deshpande C; Garber SJ; Chikarmane R; Steinmann B; Shahinyan T; Martorell L; Davies J; Smith WE; Kahler SG; McCulloch M; Wraige E; Loidi L; Höhne W; Martin L; Hadj-Rabia S; Terkeltaub R; Rutsch F
Am J Hum Genet; 2012 Jan; 90(1):25-39. PubMed ID: 22209248
[TBL] [Abstract][Full Text] [Related]
3. Paediatric pseudoxanthoma elasticum with cardiovascular involvement.
Li Q; Baker J; Kowalczyk J; Jiang Q; Uitto J; Schachner L
Br J Dermatol; 2013 Nov; 169(5):1148-51. PubMed ID: 23746223
[TBL] [Abstract][Full Text] [Related]
4. An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.
Le Boulanger G; Labrèze C; Croué A; Schurgers LJ; Chassaing N; Wittkampf T; Rutsch F; Martin L
Am J Med Genet A; 2010 Jan; 152A(1):118-23. PubMed ID: 20034067
[TBL] [Abstract][Full Text] [Related]
5. ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
Ralph D; Nitschke Y; Levine MA; Caffet M; Wurst T; Saeidian AH; Youssefian L; Vahidnezhad H; Terry SF; Rutsch F; Uitto J; Li Q
PLoS Genet; 2022 Apr; 18(4):e1010192. PubMed ID: 35482848
[TBL] [Abstract][Full Text] [Related]
6. 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
J Bone Miner Res; 2021 Nov; 36(11):2193-2202. PubMed ID: 34355424
[TBL] [Abstract][Full Text] [Related]
7. ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions.
Shimada BK; Pomozi V; Zoll J; Kuo S; Martin L; Le Saux O
Int J Mol Sci; 2021 Apr; 22(9):. PubMed ID: 33925341
[TBL] [Abstract][Full Text] [Related]
8. 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.
Omarjee L; Nitschke Y; Verschuere S; Bourrat E; Vignon MD; Navasiolava N; Leftheriotis G; Kauffenstein G; Rutsch F; Vanakker OM; Martin L
Br J Dermatol; 2020 Aug; 183(2):367-372. PubMed ID: 31646622
[TBL] [Abstract][Full Text] [Related]
9. Zebrafish enpp1 mutants exhibit pathological mineralization, mimicking features of generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE).
Apschner A; Huitema LF; Ponsioen B; Peterson-Maduro J; Schulte-Merker S
Dis Model Mech; 2014 Jul; 7(7):811-22. PubMed ID: 24906371
[TBL] [Abstract][Full Text] [Related]
10. Pseudoxanthoma elasticum with prominent arterial calcifications evoking CD73 deficiency.
Devriese M; Legrand A; Courtois MC; Jeunemaitre X; Albuisson J
Vasc Med; 2019 Oct; 24(5):461-464. PubMed ID: 31164056
[TBL] [Abstract][Full Text] [Related]
11. Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report.
Brunod I; Tosello B; Hassid S; Gire C; Thomachot L; Panuel M
BMC Pediatr; 2018 Jul; 18(1):217. PubMed ID: 29976176
[TBL] [Abstract][Full Text] [Related]
12. Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum.
Kozák E; Fülöp K; Tőkési N; Rao N; Li Q; Terry SF; Uitto J; Zhang X; Becker C; Váradi A; Pomozi V
Exp Dermatol; 2022 Apr; 31(4):548-555. PubMed ID: 34758173
[TBL] [Abstract][Full Text] [Related]
13. [GACI syndrome: a case report with a neonatal beginning].
Freychet C; Gay C; Lavocat MP; Teyssier G; Patural H; Bacchetta J; Cottalorda J; Meunier BB; Linglart A; Baujat G; Stephan JL
Arch Pediatr; 2014 Jun; 21(6):632-6. PubMed ID: 24768072
[TBL] [Abstract][Full Text] [Related]
14. Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy.
Edouard T; Chabot G; Miro J; Buhas DC; Nitschke Y; Lapierre C; Rutsch F; Alos N
Eur J Pediatr; 2011 Dec; 170(12):1585-90. PubMed ID: 21932012
[TBL] [Abstract][Full Text] [Related]
15. Genetics in arterial calcification: lessons learned from rare diseases.
Nitschke Y; Rutsch F
Trends Cardiovasc Med; 2012 Aug; 22(6):145-9. PubMed ID: 23122642
[TBL] [Abstract][Full Text] [Related]
16. Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum.
Li Q; Brodsky JL; Conlin LK; Pawel B; Glatz AC; Gafni RI; Schurgers L; Uitto J; Hakonarson H; Deardorff MA; Levine MA
J Invest Dermatol; 2014 Mar; 134(3):658-665. PubMed ID: 24008425
[TBL] [Abstract][Full Text] [Related]
17. Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene.
Li Q; Schumacher W; Jablonski D; Siegel D; Uitto J
Br J Dermatol; 2012 May; 166(5):1107-11. PubMed ID: 22229486
[TBL] [Abstract][Full Text] [Related]
18. Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development.
Li Q; van de Wetering K; Uitto J
Am J Pathol; 2019 Feb; 189(2):216-225. PubMed ID: 30414410
[TBL] [Abstract][Full Text] [Related]
19. Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.
Staretz-Chacham O; Shukrun R; Barel O; Pode-Shakked B; Pleniceanu O; Anikster Y; Shalva N; Ferreira CR; Ben-Haim Kadosh A; Richardson J; Mane SM; Hildebrandt F; Vivante A
Am J Med Genet A; 2019 Oct; 179(10):2112-2118. PubMed ID: 31444901
[TBL] [Abstract][Full Text] [Related]
20. Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Ferreira CR; Hackbarth ME; Ziegler SG; Pan KS; Roberts MS; Rosing DR; Whelpley MS; Bryant JC; Macnamara EF; Wang S; Müller K; Hartley IR; Chew EY; Corden TE; Jacobsen CM; Holm IA; Rutsch F; Dikoglu E; Chen MY; Mughal MZ; Levine MA; Gafni RI; Gahl WA
Genet Med; 2021 Feb; 23(2):396-407. PubMed ID: 33005041
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]