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Research Article

Hereditary Cholestasis with Lymphoedema (Aagenaes Syndrome, Cholestasis-Lymphoedema Syndrome): New Cases and Follow-up from Infancy to Adult Age

Pages 335-345 | Published online: 08 Jul 2009

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Read on this site (2)

Monica Drivdal, Kirsten B. Holven, Kjetil Retterstøl, Øystein Aagenaes & Bengt Frode Kase. (2018) A nine year follow-up study of patients with lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome). Scandinavian Journal of Clinical and Laboratory Investigation 78:7-8, pages 566-574.
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Monica Drivdal, Torleif Trydal, Tor-Arne Hagve, Ingunn Bergstad & Øystein Aagenæs. (2006) Prognosis, with evaluation of general biochemistry, of liver disease in lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome). Scandinavian Journal of Gastroenterology 41:4, pages 465-471.
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Articles from other publishers (42)

Alberto Quaglia, Eve A. Roberts & Michael Torbenson. 2024. MacSween's Pathology of the Liver. MacSween's Pathology of the Liver 122 294 .
Runar Almaas, Monica Atneosen-Åsegg, Mari Eknes Ytre-Arne, Maria Melheim, Hanne Sørmo Sorte, Dana Cízková, Henrik Mikael Reims, Aleš Bezrouk, Sean Philip Harrison, Janne Strand, Johanne Uthus Hermansen, Sofie Strøm Andersen, Kristin Louise Eiklid, Jaroslav Mokrý, Gareth John Sullivan & Asbjørg Stray-Pedersen. (2023) Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5’-untranslated region of UNC45A. Journal of Hepatology 79:4, pages 945-954.
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Monica Atneosen-Åsegg, Maria Melheim & Runar Almaas. (2020) MicroRNA in dried blood spots from patients with Aagenaes syndrome and evaluation of pre-analytical and analytical factors. Pediatric Research 89:7, pages 1780-1787.
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Kathleen M. Loomes & Karan McBride Emerick. 2021. Pediatric Gastrointestinal and Liver Disease. Pediatric Gastrointestinal and Liver Disease 769 785.e5 .
Kristin Iversen, Lill Monica Drivdal, Kristin J. Billaud Feragen & Amy Østertun Geirdal. (2018) Quality of life in adults with lymphedema cholestasis syndrome 1. Health and Quality of Life Outcomes 16:1.
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Alberto Quaglia, Eve A. Roberts & Michael Torbenson. 2018. Macsween's Pathology of the Liver. Macsween's Pathology of the Liver 111 274 .
James E. Squires, William F. Balistreri & Jorge A. Bezerra. 2018. Zakim and Boyer's Hepatology. Zakim and Boyer's Hepatology 976 994.e7 .
Samar H. Ibrahim, Jorge A. Bezerra & William F. Balistreri. 2015. Transplantation of the Liver. Transplantation of the Liver 288 304 .
Monica DrivdalCarl-Erik SlagsvoldOystein AagenaesBengt Frode Kase. (2014) Hereditary Lymphedema, Characteristics, and Variations in 17 Adult Patients with Lymphedema Cholestasis Syndrome 1/Aagenaes Syndrome. Lymphatic Research and Biology 12:4, pages 251-257.
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Frederick J. Suchy, Shikha S. Sundaram & Benjamin L. Shneider. 2014. Liver Disease in Children. Liver Disease in Children 199 215 .
Tawhida Y. Abdel Ghaffar & Solaf M. Elsayed. (2014) A severe form of cholestasis lymphoedema syndrome (Aagenaes syndrome) with progressive arthritis. Egyptian Liver Journal 4:1, pages 30-32.
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D. Degiorgio, N. Parrinello, P.E. Maltese, S. Michelini & M. Bertelli. 2014. Reference Module in Biomedical Sciences. Reference Module in Biomedical Sciences.
A. S. Knisely. 2014. Pathology of Pediatric Gastrointestinal and Liver Disease. Pathology of Pediatric Gastrointestinal and Liver Disease 445 476 .
Tamir Miloh & Ozlem Pinar Bulut. 2014. Cholestatic Liver Disease. Cholestatic Liver Disease 111 125 .
Peter L.M. Jansen, Ulrich Beuers & Ronald P.J. Oude Elferink. 2012. Zakim and Boyer's Hepatology. Zakim and Boyer's Hepatology 47 63 .
Bernard C. Portmann & Eve A. Roberts. 2012. MacSween's Pathology of the Liver. MacSween's Pathology of the Liver 101 156 .
Sahar Mansour & Peter S. Mortimer. 2011. Harper's Textbook of Pediatric Dermatology. Harper's Textbook of Pediatric Dermatology.
Kathleen M. Loomes & Karan McBride Emerick. 2011. Pediatric Gastrointestinal and Liver Disease. Pediatric Gastrointestinal and Liver Disease 752 766.e3 .
Cristobal Miguel Papendieck. 2011. Lymphedema. Lymphedema 437 445 .
Monica Drivdal, Elin Bjørge Løken, Tor-Arne Hagve, Ingunn Bergstad & Øystein Aagenæs. (2010) Do patients with lymphoedema cholestasis syndrome 1/Aagenaes syndrome need dietary counselling outside cholestatic episodes?. Clinical Nutrition 29:4, pages 525-530.
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P. S. Mortimer. 2010. Rook's Textbook of Dermatology. Rook's Textbook of Dermatology 1 31 .
Bn Akyildiz, N Urganci, H Kayserili & Ro Rosi. (2009) Hennekam Syndrome Presentıng Wıth Abdomınal Mass. Scottish Medical Journal 54:3, pages 1-6.
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Catharine L. McGuinness & Kevin G. Burnand. 2009. Comprehensive Vascular and Endovascular Surgery. Comprehensive Vascular and Endovascular Surgery 862 875 .
Aaron J. Small & Konstantinos N. Lazaridis. 2008. Cholestatic Liver Disease. Cholestatic Liver Disease 105 118 .
William F. Balistreri & Jorge A. Bezerra. (2006) Whatever Happened to “Neonatal Hepatitis”?. Clinics in Liver Disease 10:1, pages 27-53.
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Peter L.M. Jansen & Albert K. Groen. 2006. Zakim and Boyer's Hepatology. Zakim and Boyer's Hepatology 67 85 .
BYUNG-HO CHOE, JORGE A. BEZERRA & WILLIAM F. BALISTRERI. 2005. Transplantation of the Liver. Transplantation of the Liver 303 321 .
J.-C. TilleM.S. Pepper. (2004) Hereditary Vascular Anomalies. Arteriosclerosis, Thrombosis, and Vascular Biology 24:9, pages 1578-1590.
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Gareth P. Jevon & James E. Dimmick. 2004. Pathology of Pediatric Gastrointestinal and Liver Disease. Pathology of Pediatric Gastrointestinal and Liver Disease 270 299 .
A. S. Knisely. 2004. Pathology of Pediatric Gastrointestinal and Liver Disease. Pathology of Pediatric Gastrointestinal and Liver Disease 237 250 .
P. S. Mortimer. 2004. Rook's Textbook of Dermatology. Rook's Textbook of Dermatology 2495 2522 .
Eve A. Roberts. 2003. Diseases of the Liver and Biliary System in Children. Diseases of the Liver and Biliary System in Children 35 73 .
Peter L. M. Jansen & Ekkehard Sturm. (2003) Genetic cholestasis, causes and consequences for hepatobiliary transport. Liver International 23:5, pages 315-322.
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Martin Frühwirth, Andreas R. Janecke, Thomas Müller, Victoria E.H. Carlton, Florian Kronenberg, Felix Offner, A.S. Knisely, Silvana Geleff, Eyun J. Song, Burkhard Simma, Alfred Königsrainer, Raimund Margreiter, C.B. van der Hagen, Kristin Eiklid, Øystein Aagenaes, Laura Bull & Helmut Ellemunter. (2003) Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome. The Journal of Pediatrics 142:4, pages 441-447.
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ROBERT E. FERRELL. (2006) Research Perspectives in Inherited Lymphatic Disease. Annals of the New York Academy of Sciences 979:1, pages 39-51.
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Inge D.C. Van Balkom, Mariel Alders, Judith Allanson, Carlo Bellini, Ulrich Frank, Greetje De Jong, Ingeborg Kolbe, Didier Lacombe, Stan Rockson, Peter Rowe, Frits Wijburg & Raoul C.M. Hennekam. (2002) Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review. American Journal of Medical Genetics 112:4, pages 412-421.
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Laura N Bull. (2002) Hereditary forms of intrahepatic cholestasis. Current Opinion in Genetics & Development 12:3, pages 336-342.
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Eric Drouin, Pierre Russo, Beatriz Tuchweber, Grant Mitchell & Andrée Rasquin-Weber. (2000) North American Indian Cirrhosis in Children: A Review of 30 Cases. Journal of Pediatric Gastroenterology and Nutrition 31:4, pages 395-404.
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Laura N. Bull, Erin Roche, Eyun J. Song, Jan Pedersen, A.S. Knisely,C.B. van der Hagen, Kristin Eiklid, Øystein Aagenaes & Nelson B. Freimer. (2000) Mapping of the Locus for Cholestasis-Lymphedema Syndrome (Aagenaes Syndrome) to a 6.6-cM Interval on Chromosome 15q. The American Journal of Human Genetics 67:4, pages 994-999.
Crossref
Eric Drouin, Pierre Russo, Beatriz Tuchweber, Grant Mitchell & Andrée Rasquin‐Weber. (2000) North American Indian Cirrhosis in Children: A Review of 30 Cases. Journal of Pediatric Gastroenterology and Nutrition 31:4, pages 395-404.
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Benjamin L. Shneider. (1999) Genetic Cholestasis Syndromes. Journal of Pediatric Gastroenterology & Nutrition 28:2, pages 124-131.
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Benjamin L. Shneider. (1999) Genetic Cholestasis Syndromes. Journal of Pediatric Gastroenterology and Nutrition 28:2, pages 124-131.
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