Frequency and pathogenesis of central liver nodules in Alagille syndrome patients
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DOI: 10.1007/s00247-017-3880-3
Abstract: Dear Editor, In their study on regenerative liver nodules in Alagille syndrome, Rapp et al. [1] state that the pathogenesis of these nodules is unclear and might be related to geographical variability of the phenotyic… read more here.
Keywords: central liver; frequency; alagille syndrome; pathogenesis ... See more keywords
Spectrum of cerebral arterial and venous abnormalities in Alagille syndrome
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DOI: 10.1007/s00247-017-4043-2
Abstract: BackgroundAlagille syndrome is a pediatric multisystem disease with increased prevalence of cerebrovascular disease. The spectrum of cerebrovascular disease in Alagille syndrome includes cerebral aneurysms, moyamoya arteriopathy and dolichoectasia. The prevalence of cerebrovascular disease in Alagille… read more here.
Keywords: venous abnormalities; arterial venous; cerebrovascular disease; alagille syndrome ... See more keywords
Xanthogranulomatous osteomyelitis of the humerus in a pediatric patient with Alagille syndrome: a case report and literature review
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DOI: 10.1007/s00256-017-2707-5
Abstract: Xanthogranulomatous osteomyelitis (XO) is an exceedingly rare disease characterized by infiltration of histiocytes and foamy macrophages. Both on gross examination and on radiographs, XO can mimic malignancy. We describe the case of a 5-year-old female… read more here.
Keywords: xanthogranulomatous osteomyelitis; alagille syndrome; patient alagille; humerus ... See more keywords
Hepatocellular Carcinoma in Paediatric Patients with Alagille Syndrome: Case Series and Review of Literature
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DOI: 10.1007/s12029-020-00391-2
Abstract: Alagille syndrome (AGS), a multisystem disorder, is caused by defects in the Notch signalling pathway with an autosomal dominant inheritance [1]. The main organ systems affected are the liver (chronic cholestasis ± bile duct paucity),… read more here.
Keywords: hepatocellular carcinoma; hcc; alagille syndrome; review literature ... See more keywords
Pathological fracture of the femur in Alagille Syndrome: A case report.
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DOI: 10.1016/j.jcot.2019.12.009
Abstract: Alagille Syndrome is a rare autosomal dominant genetic disorder, occur only 1:70,000 in population, and characterized by reduced interlobular bile ducts, and resultant nutritional deficiencies associated with the inability to absorb fat-soluble vitamins such as… read more here.
Keywords: fracture femur; femur alagille; fracture; pathological fracture ... See more keywords
Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment.
Sign Up to like & getrecommendations! Published in 2021 at "Seminars in liver disease"
DOI: 10.1055/s-0041-1730951
Abstract: Alagille syndrome (ALGS) is an autosomal dominant disorder caused by pathogenic variants in JAG1 or NOTCH2, which encode fundamental components of the Notch signaling pathway. Clinical features span multiple organ systems including hepatic, cardiac, vascular,… read more here.
Keywords: clinical features; genetics; alagille syndrome; focused review ... See more keywords
Antisense oligonucleotide silencing of a glycosyltransferase, Poglut1, improves the liver phenotypes in mouse models of Alagille syndrome.
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DOI: 10.1097/hep.0000000000000380
Abstract: BACKGROUND AND AIMS Paucity of intrahepatic bile ducts is caused by various etiologies and often leads to cholestatic liver disease. For example, in patients with Alagille syndrome (ALGS), which is a genetic disease primarily caused… read more here.
Keywords: antisense oligonucleotide; jag1; alagille syndrome; liver phenotypes ... See more keywords
Abdominal Arterial Anomalies in Children With Alagille Syndrome: Surgical Aspects and Outcomes of Liver Transplantation
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DOI: 10.1097/mpg.0000000000001538
Abstract: Objectives: Angiogenic defects secondary to gene mutations of JAG1 and NOTCH2, causing arterial anomalies in Alagille syndrome (AGS), are well described in the literature. The study analyzes the frequency of abdominal arterial anomalies in children… read more here.
Keywords: abdominal arterial; alagille syndrome; liver transplantation; anomalies children ... See more keywords
Systematic Review: The Epidemiology, Natural History, and Burden of Alagille Syndrome
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DOI: 10.1097/mpg.0000000000001958
Abstract: Background and Aim: Alagille syndrome (ALGS) is an inherited multisystem disorder typically manifesting as cholestasis, and potentially leading to end-stage liver disease and death. The aim of the study was to perform the first systematic… read more here.
Keywords: epidemiology natural; alagille syndrome; natural history; epidemiology ... See more keywords
Pediatric Liver Transplant Survival in Alagille Syndrome Is Comparable to Biliary Atresia—A Linked Database Analysis
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DOI: 10.1097/mpg.0000000000003522
Abstract: Objectives: This study aims to report liver transplantation (LT) outcomes and cardiac disease manifestations in children with Alagille Syndrome (ALGS) in a contemporary cohort. Methods: This project used a novel linkage between the Scientific Registry… read more here.
Keywords: patient graft; survival; biliary atresia; alagille syndrome ... See more keywords
Alagille syndrome: an orphan disease in Colombia and summary of recent advances in treatment and survival – a case report
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DOI: 10.1097/ms9.0000000000000473
Abstract: Introduction: Alagille syndrome has been described as a multisystemic clinical spectrum caused by an autosomal dominant genetic disorder. Although it is estimated that there is 1 case per 100 000 live births, the prognosis for… read more here.
Keywords: disease colombia; alagille syndrome; orphan disease; case ... See more keywords