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American Journal of Human Genetics|December 7, 2015
SLC39A8 Deficiency: A Disorder of Manganese Transport and GlycosylationJulien H Park, Max Hogrebe, Marianne Grüneberg, et al.Molecular Genetics and Metabolism|June 7, 2017
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patientsSarah Catharina Grünert, Sonja Marina Schlatter, Robert Niklas Schmitt, et al.Eclinicalmedicine|October 19, 2023
Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort designHelge Hebestreit, Anne-Marie Lapstich, Lilly Brandstetter, et al.Psychiatry Research|April 26, 2025
Mental disorders in people with undiagnosed diseases presenting to German centres for rare diseases - prevalence, type and relevanceJan Dieris-Hirche, Stephan Herpertz, Helge Hebestreit, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2020
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)Carlos R Ferreira, Mary E Hackbarth, Shira G Ziegler, et al.Journal of Inherited Metabolic Disease|June 20, 2013
Cross-sectional observational study of 208 patients with non-classical urea cycle disordersCorinne M Rüegger, Martin Lindner, Diana Ballhausen, et al.American Journal of Human Genetics|January 3, 2012
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, et al.Lancet (London, England)|September 6, 2020
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trialRavi Savarirayan, Louise Tofts, Melita Irving, et al.Human Mutation|February 4, 2014
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndromeRoberta Piras, Francesca Chiappe, Ilaria La Torraca, et al.Journal of Inherited Metabolic Disease|September 2, 2022
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuriaKarina Grohmann-Held, Peter Burgard, Christoph G O Baerwald, et al.Pageof 12