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Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)
Ferreira, Carlos R., Hackbarth, Mary E., Ziegler, Shira G., Pan, Kristen S., Roberts, Mary S., Rosing, Douglas R., Whelpley, Margaret S., Bryant, Joy C., Macnamara, Ellen F., Wang, Sisi, Müller, Kerstin, Hartley, Iris R., Chew, Emily Y., Corden, Timothy E., Jacobsen, Christina M., Holm, Ingrid A., Rutsch, Frank, Dikoglu, Esra, Chen, Marcus Y., Mughal, M. Zulf, Levine, Michael A., Gafni, Rachel I., Gahl, William A.
Published in Genetics in medicine (01.02.2021)
Published in Genetics in medicine (01.02.2021)
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Generalized Arterial Calcification of Infancy (GACI): Optimizing Care with a Multidisciplinary Approach
Kawai, Kenji, Sato, Yu, Kawakami, Rika, Sakamoto, Atsushi, Cornelissen, Anne, Mori, Masayuki, Ghosh, Saikat Kumar, Kutys, Robert, Virmani, Renu, Finn, Aloke V
Published in Journal of multidisciplinary healthcare (01.01.2022)
Published in Journal of multidisciplinary healthcare (01.01.2022)
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Hypophosphatemia, Hyperphosphaturia, and Bisphosphonate Treatment Are Associated With Survival Beyond Infancy in Generalized Arterial Calcification of Infancy
Rutsch, Frank, Boyer, Petra, Nitschke, Yvonne, Ruf, Nico, Lorenz-Depierieux, Bettina, Wittkampf, Tanja, Weissen-Plenz, Gabriele, Fischer, Rudolf-Josef, Mughal, Zulf, Gregory, John W, Davies, Justin H, Loirat, Chantal, Strom, Tim M, Schnabel, Dirk, Nurnberg, Peter, Terkeltaub, Robert, GACI Study Group
Published in Circulation. Cardiovascular genetics (01.12.2008)
Published in Circulation. Cardiovascular genetics (01.12.2008)
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Hypercementosis Associated with ENPP1 Mutations and GACI
Thumbigere-Math, V., Alqadi, A., Chalmers, N.I., Chavez, M.B., Chu, E.Y., Collins, M.T., Ferreira, C.R., FitzGerald, K., Gafni, R.I., Gahl, W.A., Hsu, K.S., Ramnitz, M.S., Somerman, M.J., Ziegler, S.G., Foster, B.L.
Published in Journal of dental research (01.04.2018)
Published in Journal of dental research (01.04.2018)
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From membrane to mineralization: the curious case of the ABCC6 transporter
Verschuere, Shana, Van Gils, Matthias, Nollet, Lukas, Vanakker, Olivier M.
Published in FEBS letters (01.12.2020)
Published in FEBS letters (01.12.2020)
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Effects of food, fasting, and exercise on plasma pyrophosphate levels and ENPP1 activity in healthy adults
Khursigara, Gus, Huertas, Pedro, Wenkert, Deborah, O'Brien, Kevin, Sabbagh, Yves
Published in Bone (New York, N.Y.) (01.06.2023)
Published in Bone (New York, N.Y.) (01.06.2023)
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Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations
Kotwal, Anupam, Ferrer, Alejandro, Kumar, Rajiv, Singh, Ravinder J, Murthy, Vishakantha, Schultz‐Rogers, Laura, Zimmermann, Michael, Lanpher, Brendan, Zimmerman, Kristin, Stabach, Paul R, Klee, Eric, Braddock, Demetrios T, Wermers, Robert A
Published in Journal of bone and mineral research (01.04.2020)
Published in Journal of bone and mineral research (01.04.2020)
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Impact of ENPP1 genotype on arterial calcification in patients with end-stage renal failure
Eller, Philipp, Hochegger, Kathrin, Feuchtner, Gudrun M., Zitt, Emanuel, Tancevski, Ivan, Ritsch, Andreas, Kronenberg, Florian, Rosenkranz, Alexander R., Patsch, Josef R., Mayer, Gert
Published in Nephrology, dialysis, transplantation (01.01.2008)
Published in Nephrology, dialysis, transplantation (01.01.2008)
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Treatment of enpp1 deficiency and abcc6 deficiency
Year of Publication 01.07.2023
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Patent