Relevant bibliographies by topics / Alpers disease

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Alpers disease'

Author: Grafiati
Published: 28 May 2022
Last updated: 31 July 2025

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Journal articles on the topic "Alpers disease"

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Lyngbye, Troels, Hella Koopmann Kristensen, and Marie Bojsen-Møller. "Alpers' disease." Clinical Genetics 26, no. 3 (2008): 256–58. http://dx.doi.org/10.1111/j.1399-0004.1984.tb04384.x.

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Narkewicz, Michael R., Ronald J. Sokol, Bruce Beckwith, Judith Sondheimer, and Arnold Silverman. "Liver involvement in Alpers disease." Journal of Pediatrics 119, no. 2 (1991): 260–67. http://dx.doi.org/10.1016/s0022-3476(05)80736-x.

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Kapur, Raj P., Corinne Fligner, Bita Maghsoodi, and Ronald Jaffe. "Gastrointestinal Neuromuscular Pathology in Alpers Disease." American Journal of Surgical Pathology 35, no. 5 (2011): 714–22. http://dx.doi.org/10.1097/pas.0b013e31821433af.

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Mohamed, K. A., W. FathAlla, H. Parsons, and E. Ahmed. "P274 Alpers disease: does gender matter?" European Journal of Paediatric Neurology 13 (September 2009): S106. http://dx.doi.org/10.1016/s1090-3798(09)70332-0.

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Hasselmann, O. E., N. Blau, V. T. Ramaekers, and E. V. Quadros. "P276 Folinic acid substitution in Alpers disease." European Journal of Paediatric Neurology 13 (September 2009): S107. http://dx.doi.org/10.1016/s1090-3798(09)70334-4.

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Olano, J., M. Nichols, J. Cook, J. Bauerle, and G. Campbell. "PROGRESSIVE NEURONAL DEGENERATION OF CHILDHOOD (ALPERS DISEASE)." Journal of Neuropathology and Experimental Neurology 54, no. 3 (1995): 469. http://dx.doi.org/10.1097/00005072-199505000-00247.

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Walton, Alison. "A Case Study of Alpers' Disease in Siblings." American Journal of Electroneurodiagnostic Technology 36, no. 1 (1996): 18–27. http://dx.doi.org/10.1080/1086508x.1996.11080535.

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ÖZDEMİR, Mustafa, Şerif HAMİTOĞLU, Ferda ÖZLÜ, Hacer YAPICIOĞLU, Gülen GÜL MERT, and Mehmet SATAR. "The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome." Cukurova Medical Journal 47, no. 4 (2022): 1780–83. http://dx.doi.org/10.17826/cumj.1170135.

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Alpers-Huttenlocher syndrome (AHS) is an uncommon autosomal recessive mitochondrial DNA depletion disease. The classic clinical triad of progressive developmental regression, liver degeneration, and seizures helps define the disorder, but a wide range of clinical expressions occur. The most common mutations in childhood have been identified in the cytochrome c oxidase Ⅰ and Ⅳ genes. The 7706G˃A missense mutation in the Cox Ⅱ gene was previously reported in one case after postmortem histological study. Consequently, our patient is the first patient diagnosed with AHS with a 7706G˃A missense mut
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McCoy, Bláthnaid, Cormac Owens, Rachel Howley, et al. "Partial status epilepticus – Rapid genetic diagnosis of Alpers’ disease." European Journal of Paediatric Neurology 15, no. 6 (2011): 558–62. http://dx.doi.org/10.1016/j.ejpn.2011.05.012.

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Barber, Chris. "Rare health condition 28: Ehlers-Danlos syndrome; Alpers disease; prevalence and incidence." British Journal of Healthcare Assistants 13, no. 10 (2019): 492–96. http://dx.doi.org/10.12968/bjha.2019.13.10.492.

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The purpose of this series is to highlight a range of rare health conditions: those that affect no more and usually fewer than 1 person in every 2000. Many healthcare assistants and nurses will encounter some of these conditions, given the high number of them. This 28th article will briefly explore two of these conditions—Ehlers-Danlos syndrome (EDS) and Alpers disease—as well as the meaning of and similarities and differences between ‘incidence’ and ‘prevalence’.
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Dissertations / Theses on the topic "Alpers disease"

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Троцька, Ірина Олександрівна, Iryna Oleksandrivna Trotska та Ирина Александровна Троцкая. "Сучасні погляди на пріонові хвороби". Thesis, Видавництво СумДУ, 2008. http://essuir.sumdu.edu.ua/handle/123456789/3720.

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Jefferson, Ashley. "The clinical and molecular features of hereditary nephritis in Northern Ireland." Thesis, Queen's University Belfast, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.318765.

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Sedrakyan, Sargis. "Amniotic fluid stem cell therapy in chronic kidney disease progression: the case of Alport syndrome." Doctoral thesis, Università degli studi di Padova, 2012. http://hdl.handle.net/11577/3422919.

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Chronic kidney Disease (CKD) is a global health problem. It is associated with gradual decline in renal function, which develops into end stage renal disease and culminates into renal failure. Many different etiological factors are involved in the initiation and progression of CKD. The two most prevailing medical reasons for the development of progressive kidney disease are diabetes and hypertension. Regardless of the site of the initial insult, which may either be the glomerulus or tubules, all forms of progressive kidney diseases follow a final common pathway that is interstitial and glomeru
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MADEO, ANNALISA. "Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease." Doctoral thesis, Università degli studi di Genova, 2021. http://hdl.handle.net/11567/1046904.

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Introduzione: La malattia di Gaucher (GD) è la più frequente patologia da accumulo lisosomiale, causata dalla ridotta attività dell’enzima β-glucosidasi acida, che determina un progressivo accumulo di glucosilceramide nelle cellule del sistema reticolo-endoteliale. L’epatosplenomegalia e la citopenia sono le manifestazioni cliniche più comuni, ma i pazienti affetti presentano anche una disregolazione immunologica con alterazione del pattern citochinico e chemochinico e alterazioni funzionali a carico non solo dei monociti-macrofagi, ma anche di linfociti B, T e natural killer (NK). Inoltre, le
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Ninichuk, Volha. "The role of chemokine receptor CCR1-dependent macrophage recruitment for the progression of chronic kidney disease in murine Alport syndrome or type 2 diabetes." Diss., lmu, 2008. http://nbn-resolving.de/urn:nbn:de:bvb:19-79657.

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Lambert, Sébastien. "Transmission and management of brucellosis in a heterogeneous wild population of Alpine ibex (Capra ibex)." Thesis, Lyon, 2019. http://www.theses.fr/2019LYSE1278.

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La gestion des maladies infectieuses dans la faune sauvage se heurte à de nombreuses limites, et le développement de stratégies efficaces représente un défi de taille. Pour atteindre cet objectif, une compréhension fine des facteurs influençant la transmission et la persistance de l’infection est nécessaire. Parmi ces facteurs, l’hétérogénéité de transmission est une caractéristique importante des populations sauvages. En effet, la diversité des comportements, des structures sociales et spatiales, ou encore des espèces peut conduire à des contributions très variables au nombre de nouvelles inf
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Larrue, Romain. "Déterminants moléculaires et cellulaires des maladies rénales chroniques et de leurs complications." Electronic Thesis or Diss., Université de Lille (2022-....), 2024. http://www.theses.fr/2024ULILS026.

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La maladie rénale chronique est définie indépendamment de sa cause, par la présence,pendant plus de 3 mois, de marqueurs d’atteinte rénale ou d’une baisse du débit de filtration glomérulaire estimé (DFG estimé) au-dessous de 60 ml/min/1,73 m². Elle est associée à un risque accru de progression vers l’insuffisance rénale chronique terminale et à une diminution de la survie des patients. Les options thérapeutiques restent limitées et reposent essentiellement sur la dialyse et la transplantation rénale.Le projet de thèse proposé vise à identifier de nouveaux déterminants moléculaires et cellulair
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Harvey, Scott Jon. "Type IV collagen in development and disease : towards gene therapy for X-linked Alport syndrome." 2004. http://link.library.utoronto.ca/eir/EIRdetail.cfm?Resources__ID=94705&T=F.

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Ninichuk, Volha [Verfasser]. "The role of chemokine receptor CCR1-dependent macrophage recruitment for the progression of chronic kidney disease in murine Alport syndrome or type 2 diabetes / vorgelegt von Volha Ninichuk." 2008. http://d-nb.info/987945971/34.

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Spieker, Christine. "Die Bedeutung der glomerulären Basalmembrankomponente Nidogen-1 bei podozytären Erkrankungen der Niere." Doctoral thesis, 2017. http://hdl.handle.net/11858/00-1735-0000-0023-3E54-4.

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Books on the topic "Alpers disease"

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Foundation, Alpha-1. Welcome to Alphaville: Big fat reference guide for Alphas, their families, and their doctors : Alpha-1 disease management and prevention program. AlphaNet, 2004.

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Kieran, Carey. Ultimate Alpers Disease Cookbook: 100+ Detailed Recipes. Independently Published, 2022.

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Publications, ICON Health. The Official Parent's Sourcebook on Alpers' Disease: Updated Directory for the Internet Age. Icon Health Publications, 2003.

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Heidet, Laurence, Bertrand Knebelmann, and Marie Claire Gubler. Alport syndrome. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0323.

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The diagnosis of Alport syndrome is suspected from the clinical features and confirmed by identifying the almost pathognomonic ultrastructural changes to the basement membrane in a family member with early disease (so that glomeruli are not too sclerosed), or in modern times by identifying a causative mutation in one or more of the three implicated COL4 genes. Genetic testing is becoming simpler and cheaper, but is still out of the reach of many. Eighty-five per cent of cases are caused by COL4A5 mutations and 10–15% by autosomal recessive disease. A significant proportion of morbidity in X-li
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Cui, Zhao, Neil Turner, and Ming-hui Zhao. Alport post-transplant antiglomerular basement membrane disease. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0075.

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Alport antiglomerular basement membrane (anti-GBM) disease is a rare example of disease caused by allo-sensitization after renal transplantation, first described in 1992. Because the recipient lacks a specific glomerular basement membrane (GBM) protein, they can become sensitized to the normal molecule present in the GBM of the donor kidney. The disease is restricted to the allograft. Interestingly severe disease arises from this only arises rarely, certainly less than 1 in 20, probably closer to 1 in 50. It characteristically causes late graft loss in a first transplant with accelerated tempo
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Heidet, Laurence, Bertrand Knebelmann, and Marie Claire Gubler. Alport syndrome. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0322_update_001.

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This chapter describes the clinical features of Alport syndrome. The characteristic features of this familial condition are haematuria with progressive nephropathy and sensorineural hearing loss. Most cases are X-linked so this is typically seen in boys and young men, but female heterozygous (‘carriers’) of X-linked Alport syndrome are also at significant risk of renal disease in their lifetime. The average age of end-stage renal failure is in the third or fourth decade. Those with autosomal recessive disease (approximately 15%) show a similar phenotype. Hearing loss characteristically develop
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Turner, Neil, and Bertrand Knebelmann. MYH9 and renal disease. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0342_update_001.

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MYH9 encodes one of three heavy chain isoforms for the non-muscle myosin II (NM II) molecule. NM II is involved in cell structure and shape and motility. Myosin II is very widely expressed but MYH9 is highly expressed in podocytes. MYH9 diseases are characterized by various combinations of autosomal dominant progressive, proteinuric renal disease, giant platelets with low platelet counts, progressive sensorineural hearing impairment, granulocyte inclusions, and in some patients also cataracts. Although the eponyms Epstein and Fechtner have been given to MYH9 renal syndromes, there is a spectru
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Heidet, Laurence, Bertrand Knebelmann, and Marie Claire Gubler. Alport syndrome. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0324.

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Management of Alport syndrome has in the past been expectant and supportive. Modern hearing aids have substantially improved the function of affected individuals. However, animal data and more recently observational data from Alport registries strongly suggest a protective effect of angiotensin-converting enzyme inhibitors. There is a suggestion that early commencement of treatment may slow progression substantially. These should now be recommended for all with proteinuria, and possibly even before then for those known to harbour mutations certain to cause end-stage renal failure. A very small
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Heidet, Laurence, Bertrand Knebelmann, and Marie Claire Gubler. Thin glomerular basement membrane nephropathy and other collagenopathies. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0325_update_001.

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The discovery of a thin glomerular basement membrane in a renal biopsy without any other abnormalities can be explained in a number of ways. This could be an early biopsy in a patient with Alport syndrome, or it could be an individual who is a carrier for an Alport gene. These carriers are at increased risk of significant renal disease in their lifetime and some have proteinuria as well as haematuria, so they can no longer be equated with the historic label of benign familial haematuria. Some families with a thin glomerular basement membrane and haematuria inherited in an autosomal dominant fa
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Harvey, Scott Jon. Type IV collagen in development and disease: Towards gene therapy for X-linked Alport syndrome. 2004.

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Book chapters on the topic "Alpers disease"

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Saneto, Russell P., and Bruce H. Cohen. "Alpers–Huttenlocher Syndrome, Polymerase Gamma 1, and Mitochondrial Disease." In Mitochondrial Disorders Caused by Nuclear Genes. Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4614-3722-2_4.

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Scharnagl, Hubert, Winfried März, Markus Böhm, et al. "Alport Syndrome." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_86.

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Bui, Kelly, and SriniVas Sadda. "Alport Disease/Syndrome, Renal." In Encyclopedia of Ophthalmology. Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-35951-4_1052-1.

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Bui, Kelly, and SriniVas Sadda. "Alport Disease/Syndrome, Renal." In Encyclopedia of Ophthalmology. Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-540-69000-9_1052.

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Rheault, Michelle N., and Clifford E. Kashtan. "Alport Syndrome and Thin Basement Membrane Nephropathy." In Pediatric Kidney Disease. Springer Berlin Heidelberg, 2016. http://dx.doi.org/10.1007/978-3-662-52972-0_18.

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Rheault, Michelle N., and Rachel Lennon. "Alport Syndrome and Other Type IV Collagen Disorders." In Pediatric Kidney Disease. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-11665-0_16.

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Scolari, F., B. Valzorio, F. Fasciolo, et al. "Kidney Transplantation in Alport�s Syndrome." In Hereditary Kidney Diseases. KARGER, 1997. http://dx.doi.org/10.1159/000059892.

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Scharnagl, Hubert, Winfried März, Markus Böhm, et al. "Alport Syndrome – Diffuse Leiomyomatosis Complex." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_8690.

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Scharnagl, Hubert, Winfried März, Markus Böhm, et al. "Alport Syndrome – Mental Retardation Complex." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_8691.

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Renieri, A., M. Bruttini, M. Piccini, et al. "Molecular Diagnosis of Alport Syndrome: The Experience in Siena." In Hereditary Kidney Diseases. KARGER, 1997. http://dx.doi.org/10.1159/000059882.

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Conference papers on the topic "Alpers disease"

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Huang, Yinan, Hongsheng Yu, Can Hu, et al. "IDDF2025-ABS-0098 The ALPS-HCC score: a machine-learning model incorporating dynamic liver stiffness measurement to predict hepatocellular carcinoma risk." In Abstracts of the International Digestive Disease Forum (IDDF), Hong Kong, 5 – 6 July 2025. BMJ Publishing Group Ltd and British Society of Gastroenterology, 2025. https://doi.org/10.1136/gutjnl-2025-iddf.142.

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Gyoneva, Lazarina, Mohammad F. Hadi, Yoav Segal, Kevin D. Dorfman, and Victor H. Barocas. "Role of Lateral Interactions in Type IV Collagen Network Mechanics." In ASME 2013 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2013. http://dx.doi.org/10.1115/sbc2013-14625.

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The basement membrane is a specialized part of the extra-cellular matrix. It is usually characterized as a scaffold for epithelial cells but in some tissues it serves other, mechanical, roles [1]. The mechanical properties of the basement membrane are mainly determined by one of its main constituents — type IV collagen. Unlike the well-known fibrous type I collagen, collagen IV assembles into planar networks (Fig. 1) [2]. The α 1(IV) and α 2(IV) collagen IV chains assemble into the so-called major chain network, present in all basement membranes. The α 3(IV), α 4(IV), α 5(IV) collagen IV chain
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Gyoneva, Lazarina, Yoav Segal, Kevin D. Dorfman, and Victor H. Barocas. "Contribution of the Minor Chain Type IV Collagen Network to the Mechanics of the Ocular Lens Capsule." In ASME 2012 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2012. http://dx.doi.org/10.1115/sbc2012-80393.

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The ocular lens capsule (LC) is a specialized basement membrane which completely surrounds the lens. The LC serves as an attachment point for lens epithelial and fiber cells, controls lens solute and water transport, and makes accommodation possible [1]. It is primarily composed of type IV collagen (65% of dry weight), laminin, nidogen, and proteoglycans, of which type IV collagen is the main-tension resisting element [1,2]. Collagen IV monomers organize into polygonal planar networks resembling chicken wire (Fig.1) [3]. There are six different collagen IV monomers, labeled α1(IV) to α6(IV) ea
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