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Diagnostic delay in inherited metabolic diseases
Julian Teinert, Florian Gleich, Viktor Kožich, Carlo Dionisi-Vici, Marcello Bellusci, Dorothea Haas, Pavel Ješina, Diego Martinelli, Patricia Pérez-Mohand, Alberto Burlina, Urh Grošelj
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Oznake: European Reference Network for Hereditary Metabolic Disorders;MetabERN;U-IMD;Unified European Registry for Inherited Metabolic Disorders;diagnostic odyssey;inherited metabolic diseases;
Purpose: Early diagnosis and timely initiation of treatment have been shown to be crucial to improve clinical outcomes in individuals with inherited metabolic diseases (IMDs). However, comprehensive data on the diagnostic process and the potential diagnostic delay in IMDs are scarce. This study aims ...
Leto: 2026 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
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