Showing results (91-100 of 102) with videos related to
Sort By:
Pageof 11
Orphanet Journal of Rare Diseases|August 8, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.Nature Communications|September 21, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic aminesOya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, et al.Orphanet Journal of Rare Diseases|November 29, 2025
Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithmMarco Spada, Serena Gasperini, Massimiliano Filosto, et al.Journal of Inherited Metabolic Disease|July 15, 2023
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolismYılmaz Yıldız, Oya Kuseyri Hübschmann, Ayça Akgöz Karaosmanoğlu, et al.The Lancet. Rheumatology|January 22, 2024
Development and validation of an OMERACT ultrasound scoring system for the extent of calcium pyrophosphate crystal deposition at the joint level and patient levelSilvia Sirotti, Lene Terslev, Emilio Filippucci, et al.Annals of the Rheumatic Diseases|March 15, 2018
Identification of calcium pyrophosphate deposition disease (CPPD) by ultrasound: reliability of the OMERACT definitions in an extended set of joints-an international multiobserver study by the OMERACT Calcium Pyrophosphate Deposition Disease Ultrasound Subtask ForceGeorgios Filippou, Carlo Alberto Scirè, Antonella Adinolfi, et al.International Journal of Neonatal Screening|August 23, 2022
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National ExperienceMargherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, et al.American Journal of Human Genetics|July 16, 2020
The Genetic Landscape and Epidemiology of PhenylketonuriaAlicia Hillert, Yair Anikster, Amaya Belanger-Quintana, et al.Annals of the Rheumatic Diseases|June 9, 2026
Gout, Hyperuricemia and Crystal-Associated Disease Network (G-CAN) consensus statement regarding labels and definitions for disease elements in calcium pyrophosphate crystal deposition (CPPD)Georgios Filippou, Laura Pezzoni, Emilio Filippucci, et al.The Journal of Clinical Endocrinology and Metabolism|October 22, 2021
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort StudyFerdy S van Geest, Stefan Groeneweg, Erica L T van den Akker, et al.Pageof 11