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PMID:26467175
The challenge of understanding and predicting phenotypic diversity in urea cycle disorders.
Posset R, Zielonka M, Gleich F, Garbade SF, Hoffmann GF, Kölker S; Urea Cycle Disorders Consortium (UCDC) and European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group.