What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of 'Internal Medicine for Rare Genetic Syndromes'.

Autor: Rosenberg AGW; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.; Dutch Center of Reference for Prader-Willi Syndrome, 3015 GD Rotterdam, The Netherlands., Pater MRA; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands., Pellikaan K; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.; Dutch Center of Reference for Prader-Willi Syndrome, 3015 GD Rotterdam, The Netherlands., Davidse K; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.; Dutch Center of Reference for Prader-Willi Syndrome, 3015 GD Rotterdam, The Netherlands., Kattentidt-Mouravieva AA; Stichting Zuidwester, 3241 LB Middelharnis, The Netherlands., Kersseboom R; Stichting Zuidwester, 3241 LB Middelharnis, The Netherlands., Bos-Roubos AG; Center of Excellence for Neuropsychiatry, Vincent van Gogh, 5803 DN Venray, The Netherlands., van Eeghen A; 's Heeren Loo, Care Group, 3818 LA Amersfoort, The Netherlands.; Department of Pediatrics, Amsterdam University Medical Center, 1105 AZ Amsterdam, The Netherlands.; Academic Center for Growth Disorders, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands., Veen JMC; 's Heeren Loo, Care Providing Agency, 6733 SC Wekerom, The Netherlands., van der Meulen JJ; 's Heeren Loo, Care Providing Agency, 6733 SC Wekerom, The Netherlands., van Aalst-van Wieringen N; Department of Physical Therapy, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands., Hoekstra FME; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.; Department of Internal Medicine, Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., van der Lely AJ; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands., de Graaff LCG; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.; Dutch Center of Reference for Prader-Willi Syndrome, 3015 GD Rotterdam, The Netherlands.; Academic Center for Growth Disorders, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.; ENCORE-Dutch Center of Reference for Neurodevelopmental Disorders, 3015 GD Rotterdam, The Netherlands.; Dutch Center of Reference for Turner Syndrome, 3015 GD Rotterdam, The Netherlands.; Dutch Center of Reference for Disorders of Sex Development, 3015 GD Rotterdam, The Netherlands.

Publikováno v: Journal of clinical medicine [J Clin Med] 2021 Nov 22; Vol. 10 (22). Date of Electronic Publication: 2021 Nov 22.

Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1.

Autor: Rosenberg, Anna G. W., KéMochèl, Hähner, Lorena M., Ruules, Lara, Davidse, Kirsten, Bos-Roubos, Anja G., van Dijk, Sarah A., Zillikens, M. Carola, Taal, Walter, van der Lely, Aart J., de Graaff, Laura C. G.

Publikováno v: Frontiers in Endocrinology; 2024, p1-12, 12p

Closing gaps in care and knowledge for adults with complex genetic conditions.

Autor: Malecki, Sarah, Cohen, Eyal, Verma, Amol A., Bassett, Anne S.

Publikováno v: Canadian Medical Association Journal (CMAJ); 11/4/2024, Vol. 196 Issue 37, pE1267-E1268, 2p