Publications by authors named "Ulrike Botschen"

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Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2.
Carlos R Ferreira, Mary E Hackbarth, Yvonne Nitschke, Ulrike Botschen, Rachel I Gafni

JBMR Plus· May 2025

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ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.
Stephanie A Mercurio, Lauren M Chunn, Gus Khursigara, Catherine Nester, Kathleen Wray, Ulrike Botschen

Hum Mutat· December 2022

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An Unusual Case of Transient Cardiac Calcification Identified on Antenatal Echocardiography: A Generalized Arterial Calcification of Infancy (GACI) Like Presentation.
Jananie Suntharesan, Umber Agarwal, Joyce Lim, Catherine Collingwood, Shivaram Avula, Ulrike Botschen

Calcif Tissue Int· December 2022

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Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
Carlos R Ferreira, Kristina Kintzinger, Mary E Hackbarth, Ulrike Botschen, Yvonne Nitschke

J Bone Miner Res· November 2021

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Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, Tanja Wittkampf, Marcel du Moulin

Am J Hum Genet· January 2012

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