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(2008) 10:R104

[Crossref] Groeneweg M, Quero JC, Schalm SW (1998) Subclinical hepatic encephalopathy impairs daily functioning

Treatment consists of replacement of kidney tubular losses, symptomatic management of systemic complications, and specific therapy directed at the basic defect, i.e., lysosomal cystine accumulation

A variant here, P478L, is associated with SPCD 55 , and in human OCT1, the equivalent residues are also implicated in the inward-outward conformational transition 29