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Human Mutation|July 29, 2016
Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1Jacqueline Stella, Insa Buers, Koen van de Wetering, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|August 19, 2017
When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuriaJan-Niclas Schwade, Matthias Endmann, Thomas Hofmann, et al.Journal of Cellular and Molecular Medicine|December 18, 2009
Expression of NPP1 is regulated during atheromatous plaque calcificationYvonne Nitschke, Simone Hartmann, Giovanni Torsello, et al.American Journal of Perinatology|May 20, 2009
Generalized arterial calcification of infancy associated with meconium peritonitis: a case report and review of the literatureTaylor Sawyer, Michelle Stacey, Michael Mulreany, et al.JIMD Reports|February 23, 2013
Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1Silvia Galletti, Yvonne Nitschke, Anna M Malavolti, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|December 11, 2025
A randomized Phase 1b trial evaluating the pharmacodynamics of ilofotase alfa in adults with hypophosphatasiaLothar Seefried, Juliane Bernholz, Maarten Kraan, et al.Bone|November 1, 2025
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2): Is phosphate supplementation safe?Martin Munteanu, Frank Rutsch, Yvonne Nitschke, et al.Pediatric Nephrology (Berlin, Germany)|April 21, 2015
Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiencyJens C Koenig, Frank Rutsch, Clemens Bockmeyer, et al.American Journal of Medical Genetics. Part A|February 12, 2009
Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcificationsNomazulu Dlamini, Miranda Splitt, Anne Durkan, et al.Journal of Clinical Microbiology|July 11, 2008
Kocuria rhizophila adds to the emerging spectrum of micrococcal species involved in human infectionsKarsten Becker, Frank Rutsch, Andreas Uekötter, et al.Pageof 12