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Quoted phrase not found in phrase index: "Arthrogryposis with renal dysfunction and cholestasis syndrome"
Page 1
Overlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders.
Banushi B, Simpson F. Banushi B, et al. Cells. 2022 Nov 21;11(22):3702. doi: 10.3390/cells11223702. Cells. 2022. PMID: 36429129 Free PMC article. Review.
The formation, maturation and secretion of specific LROs are compromised in a number of hereditary rare multisystem disorders, including Hermansky-Pudlak syndromes, Griscelli syndrome and the Arthrogryposis, Renal dysfunction and Cholestasis …
The formation, maturation and secretion of specific LROs are compromised in a number of hereditary rare multisystem disorders, including Her …
Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome.
Qiu YL, Liu T, Abuduxikuer K, Hao CZ, Gong JY, Zhang MH, Li LT, Yan YY, Li JQ, Wang JS. Qiu YL, et al. Hum Mutat. 2019 Dec;40(12):2247-2257. doi: 10.1002/humu.23770. Epub 2019 Sep 3. Hum Mutat. 2019. PMID: 31479177
The typical phenotype of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome involves three cardinal symptoms as the name describes, harboring biallelic mutations on VPS33B or VIPAS39. Except for ARC syndrome, low gamma-glut …
The typical phenotype of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome involves three …
Orthopaedic manifestations of arthrogryposis-renal dysfunction-cholestasis syndrome.
Jang WY, Cho TJ, Bae JY, Jung HW, Ko JS, Park MS, Yoo WJ, Chung CY, Seo JK, Choi IH. Jang WY, et al. J Pediatr Orthop. 2011 Jan-Feb;31(1):107-12. doi: 10.1097/BPO.0b013e3182032c83. J Pediatr Orthop. 2011. PMID: 21150740
BACKGROUND: Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome (MIM208085) is a rare multisystem disorder, which involves the kidney, liver, skin, and central nervous and musculoskeletal systems. ...As there is no specific effective tre …
BACKGROUND: Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome (MIM208085) is a rare multisystem …
Ichthyosis associated with ARC syndrome: ARC syndrome is one of the differential diagnoses of ichthyosis.
Choi HJ, Lee MW, Choi JH, Moon KC, Koh JK. Choi HJ, et al. Pediatr Dermatol. 2005 Nov-Dec;22(6):539-42. doi: 10.1111/j.1525-1470.2005.00135.x. Pediatr Dermatol. 2005. PMID: 16354257 Review.
The arthrogryposis, renal tubular dysfunction and cholestasis syndrome is rare. ...In the English-language literature, half of the reported instances of this syndrome are associated with ichthyosis. We report an infant with ichthyosis in …
The arthrogryposis, renal tubular dysfunction and cholestasis syndrome is rare. ...In the English-languag …
Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis.
Aflatounian M, Smith H, Farahani F, Tofighi Naeem A, Straatman-Iwanowska A, Zoghi S, Khatri U, Tajdini P, Fallahi GH, Gissen P, Rezaei N. Aflatounian M, et al. Eur J Med Genet. 2016 Apr;59(4):237-9. doi: 10.1016/j.ejmg.2016.01.005. Epub 2016 Jan 23. Eur J Med Genet. 2016. PMID: 26808426 Free article.
ARC syndrome is a rare autosomal recessive disease, characterized by arthrogryposis, renal tubular dysfunction and cholestasis. ...He also suffered from some additional anomalies, including unilateral choanal atresia, club foot, and bilateral de …
ARC syndrome is a rare autosomal recessive disease, characterized by arthrogryposis, renal tubular dysfunction a …
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 16.71 u …
BACKGROUND ARCS1 is an acronym for arthrogryposis, renal dysfunction, and cholestasis. It is a congenital malfun …
Clinical and molecular genetic features of ARC syndrome.
Gissen P, Tee L, Johnson CA, Genin E, Caliebe A, Chitayat D, Clericuzio C, Denecke J, Di Rocco M, Fischler B, FitzPatrick D, García-Cazorla A, Guyot D, Jacquemont S, Koletzko S, Leheup B, Mandel H, Sanseverino MT, Houwen RH, McKiernan PJ, Kelly DA, Maher ER. Gissen P, et al. Hum Genet. 2006 Oct;120(3):396-409. doi: 10.1007/s00439-006-0232-z. Epub 2006 Aug 1. Hum Genet. 2006. PMID: 16896922
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (MIM 208085) is an autosomal recessive multisystem disorder that may be associated with germline VPS33B mutations. ...Heterozygosity was found in the VPS33B locus in some cases of …
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (MIM 208085) is an autosomal recessive m …
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. The detection of germline VPS33B mutations removes the need for diagnostic organ biopsies (th …
Arthrogryposis, Renal dysfunction and Cholestasis (ARC) syndrome is a multi-system autosomal recessive di …
Arthrogryposis, renal dysfunction and cholestasis syndrome.
Abdullah MA, Al-Hasnan Z, Okamoto E, Abomelha AM. Abdullah MA, et al. Saudi Med J. 2000 Mar;21(3):297-9. Saudi Med J. 2000. PMID: 11533803
We report for the first time from the Arabian Gulf area 3 patients with arthrogryposis multiplex congenita, cholestasis and renal tubular dysfunction from a Saudi family with 2 other siblings and 3 cousins who possibly died with a similar clinical pict …
We report for the first time from the Arabian Gulf area 3 patients with arthrogryposis multiplex congenita, cholestasis and …
Agranular platelets as a cardinal feature of ARC syndrome.
Kim SM, Chang HK, Song JW, Koh H, Han SJ; Severance Pediatric Liver Disease Research Group. Kim SM, et al. J Pediatr Hematol Oncol. 2010 May;32(4):253-8. doi: 10.1097/MPH.0b013e3181c3a8d0. J Pediatr Hematol Oncol. 2010. PMID: 20224444
We aimed to describe abnormal platelet morphology and its clinical significance in infants who were diagnosed with arthrogryposis renal dysfunction and cholestasis (ARC) syndrome. We collected all of the cases of ARC syndrome referred to …
We aimed to describe abnormal platelet morphology and its clinical significance in infants who were diagnosed with arthrogryposis …
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