Department of Paediatrics and Adolescent Medicine

Real-world practices and challenges of radiologically isolated syndrome: results of a cross-sector survey by the DACH MS guidelines group (2026) Held F, Bayas A, Christe K, Dettmers C, Domurath B, Ebert J, Faßhauer E, et al. Journal article Deep Phenotyping and Molecular Elucidation of a New Syndrome: Ectodermal Dysplasia Caused by IRF6 Variants (2026) Schneider H, Hadj-Rabia S, Berking C, Weider M, Steffann J, Rieker R, Gölz L, Peschel N Journal article A multi-omics approach to characterize a deep intronic ARID1A deletion in Coffin-Siris syndrome (2026) Schuhmann S, Bosch E, Fink A, Schüssler S, Uebe S, Wiesener A, Ekici AB, et al. Journal article Progressive short stature in Pearson syndrome and the impact of organ failure (2026) Yoshimi A, Cario H, Timmermann K, Kontny U, Lobitz S, Odenthal HS, Schmid I, et al. Journal article S3-Leitlinie „Seltene Lebererkrankungen (LeiSe LebEr) – Genetisch-cholestatische Lebererkrankungen von der Pädiatrie bis zum Erwachsenenalter“ der Deutschen Gesellschaft für Gastroenterologie, Verdauungs- und Stoffwechselkrankheiten (DGVS) (2026) Hudert CA, Jankofsky M, Keitel-Anselmino V, Krawczyk M, Kremer A, Lammert F, Lurz E, et al. Journal article Characteristics and Outcomes of Adolescents (15–18 Years) with Chronic Myelogenous Leukemia (CML) in Chronic Phase: The Experience of the International Registry of Childhood CML † (2026) Millot F, Froment M, Durocher L, Metzler M, De Moerloose B, Brandalise SR, Borisevich M, et al. Journal article German law on protection of children with DSD: first data on care after enactment (2026) Neumann U, Binder G, Eckoldt F, Döhnert U, Dunstheimer D, Holterhus PM, Ludwikowski B, et al. Journal article From Infancy to Adolescence: The Developmental Trajectory of Food Allergy and Its Relationship with Eosinophilic Esophagitis–Mechanisms, Epidemiology, and Emerging Therapies (2026) Seyferth J, Alexanidou E, Schweizer K, Hörning A, Laffolie Jd Journal article, Review article Quality Assessment in Paediatric Cardiology: Experiences from Leveraging a Clinical Data Warehouse (2026) Wällisch W, Dittrich S, Purbojo A, Schöffl I, Ganslandt T, Prokosch HU, Kapsner L, Mang JM Journal article Longitudinal Assessment of Muscle Involvement in Late-Onset Pompe Disease Using Quantitative MRI: A Prospective Cohort Study (2026) De Lorenzo A, Forsting J, Froeling M, Güttsches AK, Enax-Krumova E, Kleefeld F, Öztürk M, et al. Journal article