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Quoted phrase not found in phrase index: "Arthrogryposis, renal dysfunction, and cholestasis 2"
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 syn …
The formation, maturation and secretion of specific LROs are compromised in a number of hereditary rare multisystem disorders, including Her …
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
All patients showed musculoskeletal symptoms and/or signs, which included vertical talus (7 feet, 4 patients), pes calcaneovalgus (4 feet, 3 patients), hip dislocation (6 hips, 3 patients), pathologic fractures (5 fractures in 5 patients), and rigid kyphosis (2 patients). …
All patients showed musculoskeletal symptoms and/or signs, which included vertical talus (7 feet, 4 patients), pes calcaneovalgus (4 feet, 3 …
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. Herein a 2.5 month old infant with dysmorphic features, including small anterior fontanel, low set ears, beaked nose and high arched palate is pr …
ARC syndrome is a rare autosomal recessive disease, characterized by arthrogryposis, renal tubular dysfunction and cholestasis. Herein a …
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 …
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 picture. ...
We report for the first time from the Arabian Gulf area 3 patients with arthrogryposis multiplex congenita, cholestasis and renal tubular dy …
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 a singl …
We aimed to describe abnormal platelet morphology and its clinical significance in infants who were diagnosed with arthrogryposis …