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Filters applied: . Clear all Quoted phrase not found in phrase index: "Arthrogryposis, renal dysfunction, and cholestasis 2"
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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. ...Here we describe a Chinese patient with neonatal …
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. …
Arthrogryposis, Renal dysfunction and Cholestasis (ARC) syndrome is a multi-system autosomal recessive di …
Predicting personalised optimal arc parameter using knowledge-based planning model for inoperable locally advanced lung cancer patients to reduce organ at risk doses.
Tambe NS, Pires IM, Moore C, Wieczorek A, Upadhyay S, Beavis AW. Tambe NS, et al. Biomed Phys Eng Express. 2021 Sep 22;7(6). doi: 10.1088/2057-1976/ac2635. Biomed Phys Eng Express. 2021. PMID: 34517350
Furthermore, knowledge-based planning (KBP) model was developed using these plans as 'training data' to predict optimal arc parameters for individual patients based on their anatomy. ...Different arc geometries were required for different patients to minimize OAR doses. Co …
Furthermore, knowledge-based planning (KBP) model was developed using these plans as 'training data' to predict optimal arc parameter …