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Quoted phrase not found in phrase index: "Arthrogryposis, renal dysfunction, and cholestasis 2"
Page 1
ARC syndrome with high GGT cholestasis caused by VPS33B mutations.
Wang JS, Zhao J, Li LT. Wang JS, et al. World J Gastroenterol. 2014 Apr 28;20(16):4830-4. doi: 10.3748/wjg.v20.i16.4830. World J Gastroenterol. 2014. PMID: 24782640 Free PMC article.
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (OMIM 208085) is an autosomal recessive disorder that is caused by mutations in 2 interacting genes VPS33B and VIPAS39. ...
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (OMIM 208085) is an autosomal recessive …
Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
Jang JY, Kim KM, Kim GH, Yu E, Lee JJ, Park YS, Yoo HW. Jang JY, et al. J Pediatr Gastroenterol Nutr. 2009 Mar;48(3):348-54. doi: 10.1097/mpg.0b013e31817fcb3f. J Pediatr Gastroenterol Nutr. 2009. PMID: 19274792
OBJECTIVES: ARC (arthrogryposis, renal dysfunction, and cholestasis) syndrome is a rare, fatal cause of neonatal intrahepatic cholestasis without known treatment modalities and has recently been ascribed to a mutation in the VPS33B gene. ...
OBJECTIVES: ARC (arthrogryposis, renal dysfunction, and cholestasis) syndrome is a rare, fatal cause of n …
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
Cullinane AR, Straatman-Iwanowska A, Seo JK, Ko JS, Song KS, Gizewska M, Gruszfeld D, Gliwicz D, Tuysuz B, Erdemir G, Sougrat R, Wakabayashi Y, Hinds R, Barnicoat A, Mandel H, Chitayat D, Fischler B, Garcia-Cazorla A, Knisely AS, Kelly DA, Maher ER, Gissen P. Cullinane AR, et al. Hum Mutat. 2009 Feb;30(2):E330-7. doi: 10.1002/humu.20900. Hum Mutat. 2009. PMID: 18853461 Free PMC article.
Arthrogryposis, Renal dysfunction and Cholestasis (ARC) syndrome is a multi-system autosomal recessive disorder caused by germline mutations in VPS33B. ...This patient's clinical condition improved and he is alive at the age of 2.5 years. Thus w …
Arthrogryposis, Renal dysfunction and Cholestasis (ARC) syndrome is a multi-system autosomal recessive di …