Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants.

Autor: Muffels IJJ; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Sadek M; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Kozicz T; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Anatomy, University of Pecs Medical School, Pecs, Hungary., Morava E; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Biophysics, University of Pecs Medical School, Pecs, Hungary.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Sep; Vol. 47 (5), pp. 935-944. Date of Electronic Publication: 2024 Jun 21.

Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.

Autor: Muffels IJJ; Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands; Center for Translational Immunology (CTI), Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Schene IF; Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands., Rehmann H; Department of Energy and Biotechnology, Flensburg University of Applied Sciences, Flensburg, Germany., Massink MPG; Department of Genetics, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., van der Wal MM; Center for Translational Immunology (CTI), Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Bauder C; Department of Neuroendocrinology, Max Planck Institute of Psychiatry, Munich, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, Munich, Germany., Labeur M; Department of Neuroendocrinology, Max Planck Institute of Psychiatry, Munich, Germany., Armando NG; Instituto de Investigación en Biomedicina de Buenos Aires (IBioBA) - CONICET - Partner Institute of the Max Planck Society, Buenos Aires, Argentina., Lequin MH; Division Imaging and Oncology University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Houben ML; Department of General Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Giltay JC; Department of Genetics, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Haitjema S; Central Diagnostics Laboratory, University Medical Center Utrecht, Utrecht, the Netherlands., Huisman A; Central Diagnostics Laboratory, University Medical Center Utrecht, Utrecht, the Netherlands., Vansenne F; Department of Medical Genetics, University Medical Center Groningen, Groningen, the Netherlands., Bluvstein J; Dravet Center and Comprehensive Epilepsy Center, NYU School of Medicine, New York, NY, USA., Pappas J; NYU Clinical Genetic Services, NYU Grossman School of Medicine, New York, NY, USA., Shailee LV; Department of Radiology, NYU Grossman School of Medicine, New York, NY, USA., Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA., Mokry M; Laboratory of Experimental Cardiology, Department of Cardiology, University Medical Center Utrecht, University of Utrecht, Utrecht, the Netherlands., van Haaften GW; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Nieuwenhuis EES; Department of Biomedical and Life Sciences, University College Roosevelt, Middelburg, the Netherlands., Refojo D; Instituto de Investigación en Biomedicina de Buenos Aires (IBioBA) - CONICET - Partner Institute of the Max Planck Society, Buenos Aires, Argentina; Molecular Neurobiology, Max Planck Institute of Psychiatry, Munich, Germany., van Wijk F; Department of Genetics, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Fuchs SA; Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands., van Hasselt PM; Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands. Electronic address: p.vanhasselt@umcutrecht.nl.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2023 Jan 05; Vol. 110 (1), pp. 146-160.