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doi: 10.1186/s12916-022-02448-4 155 WolffDDrewitzKPUlrichASiegelsDDeckertSSprengerAAet al

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5-Oxoprolinase deficiency is a very rare autosomal recessive disease characterized by 5-oxoprolinuria, and a very heterogeneous clinical presentation, including renal stone formation, enterocolitis, mental retardation, neonatal hypoglycemia, microcytic anemia and microcephaly (Njalsson and Norgren, 2005