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Molecular Genetics and Metabolism Reports|October 20, 2025
Risk of inadequate protein and micronutrient intakes in patients with PKU with an increased phe-tolerance: Impact of a micronutrient-dense protein substituteCarmen Rohde, Denise Leonne Hofman, Ira Klawon, et al.
Calcified Tissue International|October 11, 2022
An Unusual Case of Transient Cardiac Calcification Identified on Antenatal Echocardiography: A Generalized Arterial Calcification of Infancy (GACI) Like PresentationJananie Suntharesan, Umber Agarwal, Joyce Lim, et al.
Stem Cell Research|February 17, 2020
Generation of three induced pluripotent cell lines (iPSCs) from an Aicardi-Goutières syndrome (AGS) patient harboring a deletion in the genomic locus of the sterile alpha motif and HD domain containing protein 1 (SAMHD1)Nina V Fuchs, Maximilian Schieck, Michaela Neuenkirch, et al.
Arthritis Research & Therapy|October 7, 2005
Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha populationEun-Kyung Suk, Ida Malkin, Stefan Dahm, et al.
American Journal of Medical Genetics. Part A|January 17, 2013
Singleton-Merten syndrome: an autosomal dominant disorder with variable expressionAnnette Feigenbaum, Christine Müller, Christopher Yale, et al.
Human Mutation|September 23, 2022
ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient databaseStephanie A Mercurio, Lauren M Chunn, Gus Khursigara, et al.
JIMD Reports|March 31, 2015
The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to SapropterinFriedrich K Trefz, Ania C Muntau, Florian B Lagler, et al.
Molecular Genetics and Metabolism|April 22, 2023
Two years of pegvaliase in Germany: Experiences and best practice recommendationsJohannes Krämer, Christoph Baerwald, Christian Heimbold, et al.
European Journal of Pain (London, England)|January 3, 2026
Reduced Descending Itch Inhibition in Peripheral Neuropathy Patients With Chronic PruritusJonas Eck, Stephan Bigalke, Martin Schmelz, et al.
Annals of the Rheumatic Diseases|May 7, 2020
BCP crystals promote chondrocyte hypertrophic differentiation in OA cartilage by sequestering Wnt3aJessica Bertrand, Tabea Kräft, Tobias Gronau, et al.
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