Diagnosis

Megaloblastic anemia and macrocytosis

Pillai et al., 2020 - Riboflavin Transporter Deficiency presenting as megaloblastic anemia with neurological symptoms

Torrez et al., 2021 - Acquired megaloblastic anemia

Cackmakli et al., 2019 - Macrocytosis in Lesch-Nyhan syndrome

GAMUTs - Lists IEMs associated to hematological abnormalities, including megaloblastic and macrocytic anemia

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