A natural history study in patients with ENPP1 deficiency
Nitschke, Yvonne, Kintzinger, Kristina, Hackbarth, Mary, Botschen, Ulrike, Wang, Sisi, Gafni, Rachel, Mueller, Kerstin, Khursigara, Gus, Gahl, William, Rutsch, Frank, Ferreira, Carlos
Published in Bone Reports (01.10.2020)
Published in Bone Reports (01.10.2020)
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Journal Article
Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies
Ferreira, Carlos R, Kintzinger, Kristina, Hackbarth, Mary E, Botschen, Ulrike, Nitschke, Yvonne, Mughal, M Zulf, Baujat, Genevieve, Schnabel, Dirk, Yuen, Eric, Gahl, William A, Gafni, Rachel I, Liu, Qing, Huertas, Pedro, Khursigara, Gus, Rutsch, Frank
Published in Journal of bone and mineral research (01.11.2021)
Published in Journal of bone and mineral research (01.11.2021)
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Journal Article
An Unusual Case of Transient Cardiac Calcification Identified on Antenatal Echocardiography: A Generalized Arterial Calcification of Infancy (GACI) Like Presentation
Suntharesan, Jananie, Agarwal, Umber, Lim, Joyce, Collingwood, Catherine, Avula, Shivaram, Mughal, M. Zulf, Nitschke, Yvonne, Botschen, Ulrike, Rutsch, Frank, Ramakrishnan, Renuka
Published in Calcified tissue international (01.12.2022)
Published in Calcified tissue international (01.12.2022)
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Journal Article
Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6
Nitschke, Yvonne, Baujat, Geneviève, Botschen, Ulrike, Wittkampf, Tanja, du Moulin, Marcel, Stella, Jacqueline, Le Merrer, Martine, Guest, Geneviève, Lambot, Karen, Tazarourte-Pinturier, Marie-Frederique, Chassaing, Nicolas, Roche, Olivier, Feenstra, Ilse, Loechner, Karen, Deshpande, Charu, Garber, Samuel J., Chikarmane, Rashmi, Steinmann, Beat, Shahinyan, Tatevik, Martorell, Loreto, Davies, Justin, Smith, Wendy E., Kahler, Stephen G., McCulloch, Mignon, Wraige, Elizabeth, Loidi, Lourdes, Höhne, Wolfgang, Martin, Ludovic, Hadj-Rabia, Smaïl, Terkeltaub, Robert, Rutsch, Frank
Published in American journal of human genetics (13.01.2012)
Published in American journal of human genetics (13.01.2012)
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Journal Article
ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus‐specific patient database
Mercurio, Stephanie A., Chunn, Lauren M., Khursigara, Gus, Nester, Catherine, Wray, Kathleen, Botschen, Ulrike, Kiel, Mark J., Rutsch, Frank, Ferreira, Carlos R.
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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Journal Article
A natural history study of generalized arterial calcification of infancy (GACI) and autosomal recessive hypophosphatemic rickets (ARHR2) due to ENPP1 or ABCC6 deficiency: interim analysis
Nitschke, Yvonne, Kintzinger, Kristina, Hackbarth, Mary, Botschen, Ulrike, Wang, Sisi, Gafni, Rachel I, Mueller, Kerstin, Ahmed, Ruhi, Yuen, Eric, Gahl, William A, Ferreira, Carlos R, Rutsch, Frank
Published in Bone Abstracts (31.07.2019)
Published in Bone Abstracts (31.07.2019)
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