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Orphanet Journal of Rare Diseases|September 22, 2020
Guidelines for diagnosis and management of congenital central hypoventilation syndromeHa Trang, Martin Samuels, Isabella Ceccherini, et al.Pediatric Neurology|October 23, 2025
Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's PerspectiveFrancesco Gavazzi, Virali Patel, Jacqueline A Erler, et al.Transplant International : Official Journal of the European Society for Organ Transplantation|December 5, 2022
Immune Profiling of Peripheral Blood Mononuclear Cells at Pancreas Acute Rejection Episodes in Kidney-Pancreas Transplant RecipientsJordi Rovira, Maria Jose Ramirez-Bajo, Elisenda Bañón-Maneus, et al.Journal of Inherited Metabolic Disease|December 2, 2016
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencyMartina Huemer, Daria Diodato, Bernd Schwahn, et al.Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|August 30, 2024
A multicenter study of the risk of major bleeding in patients with and without cirrhosis undergoing percutaneous liver proceduresAnnabel Blasi, Angeles Garcia-Criado, Julian Moreno-Rojas, et al.Frontiers in Psychiatry|July 19, 2021
Study Protocol-Coping With the Pandemics: What Works Best to Reduce Anxiety and Depressive SymptomsLydia Fortea, Aleix Solanes, Edith Pomarol-Clotet, et al.Journal of Inherited Metabolic Disease|November 11, 2025
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) DeficiencyMariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek, et al.FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|April 26, 2020
HIF1α-dependent metabolic reprogramming governs mesenchymal stem/stromal cell immunoregulatory functionsRafael Contreras-Lopez, Roberto Elizondo-Vega, Maria Jose Paredes, et al.Thorax|May 1, 2019
Urban airborne particle exposure impairs human lung and blood <i>Mycobacterium tuberculosis</i> immunityMartha Torres, Claudia Carranza, Srijata Sarkar, et al.Annals of Neurology|April 25, 2019
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle DisordersRoland Posset, Andrea L Gropman, Sandesh C S Nagamani, et al.Pageof 13