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Quoted phrase not found in phrase index: "Arthrogryposis with renal dysfunction and cholestasis syndrome"
Page 1
ARC syndrome.
Mutlu M, Aslan Y, Aktürk-Acar F, Çakır M, Erduran E, Kalyoncu M. Mutlu M, et al. Turk J Pediatr. 2017;59(4):487-490. doi: 10.24953/turkjped.2017.04.019. Turk J Pediatr. 2017. PMID: 29624233 Free article.
Mutlu M, Aslan Y, Akturk-Acar F, Cakir M, Erduran E, Kalyoncu M. ARC syndrome. Turk J Pediatr 2017; 59: 487-490. Arthrogryposis-renal dysfunction-cholestasis (ARC) is an autosomal recessive multisystem disorder characterized by arthrogryposis …
Mutlu M, Aslan Y, Akturk-Acar F, Cakir M, Erduran E, Kalyoncu M. ARC syndrome. Turk J Pediatr 2017; 59: 487-490. Arthrogryposis …
Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report.
Ilhan O, Ozer EA, Ozdemir SA, Akbay S, Memur S, Kanar B, Tatli MM. Ilhan O, et al. Arch Argent Pediatr. 2016 Feb;114(1):e9-12. doi: 10.5546/aap.2016.eng.e9. Arch Argent Pediatr. 2016. PMID: 26914089 Free article. English, Spanish.
Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal findings of this syndr …
Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl org …
One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype.
Yu L, Li D, Zhang T, Xiao Y, Wang Y, Ge T. Yu L, et al. BMC Nephrol. 2022 Jun 27;23(1):228. doi: 10.1186/s12882-022-02851-2. BMC Nephrol. 2022. PMID: 35761207 Free PMC article.
BACKGROUND: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare disease with a high mortality rate caused by VPS33B or VIPAS39 mutations. ARC syndrome typically presents with arthrogryposis, renal tubular l …
BACKGROUND: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare disease with a high mor …
Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report.
Arhan E, Yusufoğlu AM, Sayli TR. Arhan E, et al. Eur J Pediatr. 2009 Aug;168(8):995-8. doi: 10.1007/s00431-008-0860-5. Epub 2008 Oct 30. Eur J Pediatr. 2009. PMID: 18972129 Review.
INTRODUCTION: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder first described in 1979 and recently ascribed to mutation in VPS33B whose product acts in intracellular trafficking. ...CASE REPORT: We repo …
INTRODUCTION: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder …
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
Gruber R, Rogerson C, Windpassinger C, Banushi B, Straatman-Iwanowska A, Hanley J, Forneris F, Strohal R, Ulz P, Crumrine D, Menon GK, Blunder S, Schmuth M, Müller T, Smith H, Mills K, Kroisel P, Janecke AR, Gissen P. Gruber R, et al. J Invest Dermatol. 2017 Apr;137(4):845-854. doi: 10.1016/j.jid.2016.12.010. Epub 2016 Dec 23. J Invest Dermatol. 2017. PMID: 28017832 Free PMC article. Review.
Two patients were homozygous for the missense variant p.Gly131Glu, whereas one patient was compound heterozygous for p.Gly131Glu and the splice site mutation c.240-1G>C, previously reported in patients with arthrogryposis renal dysfunction and cholestas …
Two patients were homozygous for the missense variant p.Gly131Glu, whereas one patient was compound heterozygous for p.Gly131Glu and the spl …
VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype.
Bull LN, Mahmoodi V, Baker AJ, Jones R, Strautnieks SS, Thompson RJ, Knisely AS. Bull LN, et al. J Pediatr. 2006 Feb;148(2):269-71. doi: 10.1016/j.jpeds.2005.10.005. J Pediatr. 2006. PMID: 16492441
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder first described in 1979 and recently ascribed to mutation in VPS33B, whose product acts in intracellular trafficking. ...We describe a patient with cho …
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder first describe …
Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China.
Li LT, Zhao J, Chen R, Wang JS. Li LT, et al. World J Gastroenterol. 2014 Jan 7;20(1):326-9. doi: 10.3748/wjg.v20.i1.326. World J Gastroenterol. 2014. PMID: 24415890 Free PMC article.
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a rare genetic disorder and has not been described in China. We present a female infant with neonatal intrahepatic cholestasis from a Chinese family with ARC syndrome …
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a rare genetic disorder and has not b …
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 chole …
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (OMIM 208085) is an autosomal recessive …
A New Aberration in the VPS33B Gene Leads to Full-Symptom ARCS1.
Adamczyk-Gruszka O, Horecka-Lewitowicz A, Zmelonek-Znamirowska A, Gruszka J, Koziel D, Lewitowicz P. Adamczyk-Gruszka O, et al. Am J Case Rep. 2021 Sep 17;22:e932769. doi: 10.12659/AJCR.932769. Am J Case Rep. 2021. PMID: 34531360 Free PMC article.
BACKGROUND ARCS1 is an acronym for arthrogryposis, renal dysfunction, and cholestasis. It is a congenital malfunction with autosomal recessive inheritance, and, unfortunately, its prognosis is still poor. ...Moreover, hypothyroidism with TSH at …
BACKGROUND ARCS1 is an acronym for arthrogryposis, renal dysfunction, and cholestasis. It is a congenital malfun …
Clinical and pathological aspects of ARC (arthrogryposis, renal dysfunction and cholestasis) syndrome in two siblings.
Tekin N, Durmuş-Aydoğdu S, Dinleyici EC, Bör O, Bildirici K, Akşit A. Tekin N, et al. Turk J Pediatr. 2005 Jan-Mar;47(1):67-70. Turk J Pediatr. 2005. PMID: 15884633 Review.
We describe the first family report of ARC syndrome (arthrogryposis multiplex congenita, renal dysfunction, and cholestasis) diagnosed in Turkey. ...A broad spectrum of histopathological abnormalities have been described in the liver and kidney. …
We describe the first family report of ARC syndrome (arthrogryposis multiplex congenita, renal dysfunction, and …
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