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Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, McKiernan PJ, Klomp LW, Morris AA, Wraith JE, McClean P, Lynch SA, Thompson RJ, Lo B, Quarrell OW, Di Rocco M, Trembath RC, Mandel H, Wali S, Karet FE, Knisely AS, Houwen RH, Kelly DA, Maher ER. Gissen P, et al. Among authors: wraith je. Nat Genet. 2004 Apr;36(4):400-4. doi: 10.1038/ng1325. Epub 2004 Mar 28. Nat Genet. 2004. PMID: 15052268
Advances in the treatment of lysosomal storage disease.
Wraith JE. Wraith JE. Dev Med Child Neurol. 2001 Sep;43(9):639-46. doi: 10.1017/s0012162201001165. Dev Med Child Neurol. 2001. PMID: 11570635 Free article. Review. No abstract available.
Lysosomal disorders.
Wraith JE. Wraith JE. Semin Neonatol. 2002 Feb;7(1):75-83. doi: 10.1053/siny.2001.0088. Semin Neonatol. 2002. PMID: 12069540 Review.
Investigation of developmental delay.
Newton RW, Wraith JE. Newton RW, et al. Among authors: wraith je. Arch Dis Child. 1995 May;72(5):460-5. doi: 10.1136/adc.72.5.460. Arch Dis Child. 1995. PMID: 7542440 Free PMC article. Review. No abstract available.
206 results