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Annals of Nutrition & Metabolism|September 30, 2020
Everyday Life, Dietary Practices, and Health Conditions of Adult PKU Patients: A Multicenter, Cross-Sectional StudyAnnemarie Klimek, Christoph Baerwald, Martin Schwarz, et al.
Molecular Genetics and Metabolism|December 24, 2023
Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuriaBarbara K Burton, Gillian E Clague, Cary O Harding, et al.
Molecular Genetics and Metabolism Reports|May 26, 2021
Health economic burden of patients with phenylketonuria (PKU) - A retrospective study of German health insurance claims dataFriedrich Trefz, Ania C Muntau, Kim M Schneider, et al.
Clinical Genetics|September 10, 2019
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment conceptsInsa Buers, Ivana Persico, Lara Schöning, et al.
Orphanet Journal of Rare Diseases|August 4, 2021
Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trialAnia C Muntau, Alberto Burlina, François Eyskens, et al.
BMC Pediatrics|November 13, 2024
Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancyHafiza Noor Ul Ayan, Yvonne Nitschke, Abdul Razzaq Mughal, et al.
Journal of Inherited Metabolic Disease|September 5, 2024
Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational studyFrançois Feillet, Jean-Baptiste Arnoux, María Bueno Delgado, et al.
JBMR Plus|April 3, 2025
Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2Carlos R Ferreira, Mary E Hackbarth, Yvonne Nitschke, et al.
American Journal of Human Genetics|January 27, 2015
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndromeFrank Rutsch, Mary MacDougall, Changming Lu, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 6, 2021
Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 DeficienciesCarlos R Ferreira, Kristina Kintzinger, Mary E Hackbarth, et al.
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