Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders

Authors: Cheung, Anthony C.T. ^a, Di Pietro, Erminia ^h, Argyriou, Catherine ^{b, h}, Bareke, Eric ^b, D'Souza, Yasmin ^h, Puri, Ratna Dua ^c, Muhammed Shabeer, P. ^c, Ganetzky, Rebecca ^{d, i}, Goldstein, Amy ^{d, i}, Vanderver, Adeline ^{e, j}, Mohan, Shruthi ^f, Majewski, Jacek ^b, Yergeau, Christine ^h, Braverman, Nancy ^{a, g, h, ⁎}

Source: In Molecular Genetics and Metabolism May 2025 145(1)