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The relationship between genotype and phenotype in 5-oxoprolinase deficiency remains to be established

Vitiligo Vitiligo is a chronic acquired skin disorder characterized by the selective loss of melanocytes, leading to patchy depigmentation

Taranta A, Elmonem MA, Bellomo F, De Leo E, Boenzi S, Janssen MJ, Jamalpoor A, Cairoli S, Pastore A, De Stefanis C, Colucci M, Rega LR, Giovannoni I, Francalanci P, van den Heuvel LP, Dionisi-Vici C, Goffredo BM, Masereeuw R, Levtchenko E, Emma F (2021) Benefits and toxicity of disulfiram in preclinical models of nephropathic cystinosis

Kulkarni RN, Holzenberger M, Shih DQ, Ozcan U, Stoffel M, Magnuson MA, et al