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Hohenfellner K, Rauch F, Ariceta G, Awan A, Bacchetta J, Bergmann C, Bechtold S, Cassidy N, Deschenes G, Elenberg E, Gahl WA, Greil O, Harms E, Herzig N, Hoppe B, Koeppl C, Lewis MA, Levtchenko E, Nesterova G, Santos F, Schlingmann KP, Servais A, Soliman NA, Steidle G, Sweeney C, Treikauskas U, Topaloglu R, Tsygin A, Veys K, R VV, Zustin J, Haffner D (2019) Management of bone disease in cystinosis: statement from an international conference

Clk1 deficiency promotes neuroinflammation and subsequent dopaminergic cell death through regulation of microglial metabolic reprogramming

Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B

It's one of the first questions patients ask their providers, and honestly, it's the right question to ask