Relevant bibliographies by topics / Alkaptonuria

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

Academic literature on the topic 'Alkaptonuria'

Author: Grafiati
Published: 14 March 2023
Last updated: 26 July 2025

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Journal articles on the topic "Alkaptonuria"

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El-Sayed Ahmed, Magdy M., Omar Hussain, David A. Ott, and Muhammad Aftab. "Severe Aortic Valve Stenosis Due to Alkaptonuric Ochronosis." Seminars in Cardiothoracic and Vascular Anesthesia 21, no. 4 (2017): 364–66. http://dx.doi.org/10.1177/1089253217720284.

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Alkaptonuric ochronosis is a rare cause of aortic valve stenosis. We report the case of a 61-year-old female patient with alkaptonuria who presented to our institute with the clinical picture of severe aortic valve stenosis, which was confirmed by transthoracic echocardiography. On aortotomy, she was noted to have an impressive black discoloration of ascending aorta and the aortic root complex involving the aortic valve leaflets. She underwent an uneventful aortic valve replacement. She was discharged home 10 days postoperatively.
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Tharini, GK, Vidhya Ravindran, N. Hema, D. Prabhavathy, and B. Parveen. "Alkaptonuria." Indian Journal of Dermatology 56, no. 2 (2011): 186. http://dx.doi.org/10.4103/0019-5154.80415.

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Bassily, Emmanuel, M. Cody O'Dell, Brad Homan, and Christopher Wasyliw. "Alkaptonuria." Orthopedics 39, no. 4 (2016): e810-e813. http://dx.doi.org/10.3928/01477447-20160503-03.

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Islam, Md Nazrul, SM Kamal, Sk Amir Hossain, and Sirajul Islam. "Alkaptonuria." Bangladesh Medical Journal Khulna 49, no. 1-2 (2017): 37–39. http://dx.doi.org/10.3329/bmjk.v49i1-2.31825.

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Alkaptonuria is a rare metabolic autosomal recessive disorder. It occurs due to lack of an enzyme that results in deposition of homogentisic acid in various tissues. A male patient of 45 years presented with back pain for 20 years and multiple joint pain for 10 years. Patient has multiple nodules in both pinnae and pigmentation in both sclerae. His urine turns black upon standing. These findings are compatible with the diagnosis of Alkaptonuria.Bang Med J (Khulna) 2016; 49 : 37-39
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Indiran, Venkatraman, Dillibabu Ethiraj, Kanakaraj Kannan, and ThirumalasettyRamachandra Prasad. "Alkaptonuria." Indian Journal of Rheumatology 13, no. 3 (2018): 209. http://dx.doi.org/10.4103/injr.injr_67_18.

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Brenton, D. P., and S. Krywawych. "Alkaptonuria." Clinics in Rheumatic Diseases 12, no. 3 (1986): 755–69. http://dx.doi.org/10.1016/s0307-742x(21)00578-6.

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Mistry, Jemma B., Marwan Bukhari, and Adam M. Taylor. "Alkaptonuria." Rare Diseases 1, no. 1 (2013): e27475. http://dx.doi.org/10.4161/rdis.27475.

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Harper, P. S. "Alkaptonuria." Journal of Medical Genetics 22, no. 2 (1985): 159. http://dx.doi.org/10.1136/jmg.22.2.159.

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Thapa, Manish, M. Bhatia, and V. K. Maurya. "Alkaptonuria." Medical Journal Armed Forces India 74, no. 4 (2018): 394–96. http://dx.doi.org/10.1016/j.mjafi.2017.06.006.

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Carlesimo, M., P. Bonaccorsi, G. Tamburrano, I. Carboni, A. Parisi, and S. Calvier. "Alkaptonuria." Dermatology 199, no. 1 (1999): 70–71. http://dx.doi.org/10.1159/000018186.

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Dissertations / Theses on the topic "Alkaptonuria"

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GAMBASSI, SILVIA. "Novel insights into alkaptonuria physiopathology." Doctoral thesis, Università di Siena, 2016. http://hdl.handle.net/11365/1004463.

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Alkaptonuria (AKU) is an ultra-rare genetic disease resulting from a deficient activity of the enzyme homogentisate 1,2- dioxygenase (HGD), responsible for the catabolism of the aromatic amino acids Phenylalanine and Tyrosine. This condition leads to the accumulation of a toxic metabolite, HGA and of its product of oxidation BQA, whose polymerization generates melanin-like aggregates, with amyloidogenic properties, leading to the phenomenon of “Ochronosis”. The most affected structures by the deposition of these ochronotic aggregates are joints, which undergo severe arthropathy; therefore, art
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Galderisi, Silvia. "Recent discoveries on the ultra-rare disease Alkaptonuria." Doctoral thesis, Università di Siena, 2020. http://hdl.handle.net/11365/1096275.

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Rare diseases by definition are pathologies that affect small numbers of people in the worldwide. The rarity of some diseases creates important challenges, more for patients and their family but also for researchers and clinicians that attempt to achieve the best care for affected people. Indeed researchers have to face with heterogeneity of rare diseases and their dispersed nature all over the word complicating even more the way that leads to the best knowledge of these pathologies. The aim of this work is to give a contribution to a better knowledge on Alkaptonuria rare disease, the first i
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Taylor, Adam Michael. "An investigation of the pathogenesis of ochronosis in alkaptonuria (AKU)." Thesis, University of Liverpool, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.539527.

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Lewis, R. "Consequences and prevention of elevated circulating tyrosine during nitisinone therapy in alkaptonuria." Thesis, Liverpool John Moores University, 2018. http://researchonline.ljmu.ac.uk/8867/.

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Alkaptonuria (AKU) is an ultra-rare, autosomal recessive disorder of tyrosine catabolism due to mutations within the homogentisate 1,2-dioxygenase (HGD) gene. The resulting enzyme deficiency leads to accumulation of homogentisic acid (HGA) and deposition of melanin-like pigment polymers in the connective tissues of the body in a process called ochronosis. This leads to debilitating early onset osteoarthropathy, renal damage and aortic valve disease. As a multisystem disorder, AKU results in progressive and chronic pain and severe morbidity. Most management approaches for AKU are palliative and
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Taylor, Leah Frances. "Assessment of disease progression in the rare disease alkaptonuria by quantitative image analysis." Thesis, University of Liverpool, 2018. http://livrepository.liverpool.ac.uk/3022580/.

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Alkaptonuria (AKU) arises from a genetic deficiency of homogentisate 1,2 dioxygenase (HGD) an enzyme involved in tyrosine metabolism. AKU is characterised by high circulating homogentisic acid (HGA) some of which is deposited as ochronotic pigment in connective tissues, mainly cartilage, leading to multisystemic damage dominated by premature severe osteoarthropathy. Pathological changes in the spine as a result of ochronosis can be imaged using fluorine-18 labelled sodium fluoride positron emission tomography (18F-NaF PET). This imaging modality allows quantitative assessment of focal bone rem
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Schiavone, Maria Lucia. "The investigation of molecular mechanisms of Alkaptonuria through novel cellular and tissue models." Doctoral thesis, Università di Siena, 2020. http://hdl.handle.net/11365/1096846.

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Alkaptonuria (AKU) is an ultra-rare genetic disease resulting from a lack in activity of the enzyme Homogentisate 1,2- dioxygenase (HGD) and responsible for one of the steps in the catabolism of the aromatic amino acids Phenylalanine and Tyrosine. This condition leads to the accumulation of Homogentisic Acid (HGA) and of its products caused by oxidation and polymerization which can generate melanin-like aggregates, with amyloidogenic properties related to the phenomenon “Ochronosis”. The most affected parts of the body are the joints with a consequent arthropathy. This work is focused on the
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Keenan, Craig. "Identification of ochronosis, its inhibition by nitisinone, and the use of surgical and chemical interventions in murine models of alkaptonuria." Thesis, University of Liverpool, 2015. http://livrepository.liverpool.ac.uk/2006679/.

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Alkaptonuria (AKU) is an ultra rare autosomal recessive disorder resulting from a deficiency of the homogentisate 1,2-dioxygenase (Hgd) enzyme and is characterized by accumulation of homogentisic acid (HGA) in plasma. The disorder has three distinct stages of disease beginning with the excretion of large quantities of HGA in the urine, followed by deposition of HGA as a polymerized pigment in collagenous tissues principally in the cartilages of loaded joints (termed ochronosis), and finally the early onset of severe and devastating osteoarthropathy. There is currently no effective treatment av
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Milella, Maria Serena. "Study of molecular mechanisms and pharmacological approaches of Alkaptonuria's disease." Doctoral thesis, Università di Siena, 2022. http://hdl.handle.net/11365/1204563.

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Alkaptonuria (AKU) is an autosomal recessive disorder, called also Black Bone Disease, for the characteristic dark coloration that some tissues and parts of the body assumed. The pathology is caused by the failure of the enzyme homogentisate 1,2- dioxygenase (HGD), that leads the accumulation of the metabolic intermediate homogentisic acid (HGA), derived by tyrosine. HGA highly reactivity triggers the formation of HGA-derived oxidized products, that react with cellular macromolecules, causing a significant generation of ROS and occurrence of oxidative stress. The ongoing oxidative stress statu
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Lamas, Joana Pereira da Silva. "Alkaptonuria - An obscure disease." Master's thesis, 2016. https://repositorio-aberto.up.pt/handle/10216/90269.

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Lamas, Joana Pereira da Silva. "Alkaptonuria - An obscure disease." Dissertação, 2016. https://repositorio-aberto.up.pt/handle/10216/90269.

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Books on the topic "Alkaptonuria"

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Rovenský, Jozef, Tibor Urbánek, Boldišová Oľga, and James A. Gallagher, eds. Alkaptonuria and Ochronosis. Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-15108-3.

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Parker, James N., and Philip M. Parker. Alkaptonuria: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. ICON Health Publications, 2007.

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Introne, Wendy J. Alkaptonuria. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0015.

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Alkaptonuria is an autosomal recessive disorder with an incidence of 1:250,000 to 1:500,000. Aside from urine that darkens, the disease is relatively asymptomatic in childhood. As a result, the diagnosis is often overlooked early in life and not considered in many patients until they begin to manifest symptoms as adults. Features include pigment deposition (ochronosis) on the eyes, ears, and hands; early-onset, progressive arthritis, particularly of the spine and large joints; valvular heart disease; and renal and prostate stones. Management continues to be symptomatic, but specific treatment
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Oľga, Boldisová, Jozef Rovenský, Tibor Urbánek, and James A. Gallagher. Alkaptonuria and Ochronosis. Springer, 2015.

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Rovenský, Jozef, Tibor Urbánek, Boldišová Oľga, and James A. Gallagher. Alkaptonuria and Ochronosis. Springer, 2016.

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Rovenský, Jozef, Tibor Urbánek, Boldišová Oľga, and James A. Gallagher. Alkaptonuria and Ochronosis. Springer, 2015.

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Dragovich, Joline. Coloring Book - You Will Get Better - Alkaptonuria. Independently Published, 2021.

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Sybert, Virginia P. Metabolic Disease. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780195397666.003.0011.

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Porphyrias – Congenital Erythropoietic Porphyria – Erythropoietic Protoporphyria – Hereditary Coproporphyria – Porphyria Cutanea Tarda – Variegate Porphyria – Mucopolysaccharidoses – Hunter Syndrome – Other Metabolic Disorders – Acrodermatitis Enteropathica – Alkaptonuria – Biotinidase Deficiency – Familial Cutaneous Amyloidosis – Prolidase Deficiency
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Sybert, Virginia P. Metabolic Disease. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190276478.003.0011.

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Chapter 11 covers Porphyrias (Congenital Erythropoietic Porphyria, Erythropoietic Protoporphyria, Hereditary Coproporphyria, Porphyria Cutanea Tarda, and Variegate Porphyria), Mucopolysaccharidoses (Hunter Syndrome), and Other Metabolic Disorders (Acrodermatitis Enteropathica, Alkaptonuria, Biotinidase Deficiency, Familial Cutaneous Amyloidosis, and Prolidase Deficiency). Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.
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Hollak, Carla E. M. Skeletal Abnormalities. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0072.

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The skeleton is frequently involved in inborn error of metabolism as part of a chronic, multisystem disease. Several disorders in adulthood may present with skeletal symptoms as a first sign of an underlying metabolic disease. Examples are Gaucher disease, alkaptonuria, hypofosfatasia or hereditary hypophosphatemic rickets. In addition, secondary skeletal problems, specifically osteoporosis, is a frequent complication of a wide range of inborn errors of metabolism. The presence of additional symptoms, specific radiographical appearance and/or biochemical abnormalities can assist in making the
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Book chapters on the topic "Alkaptonuria"

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Senarathne, Udara D., Neluwa-Liyanage R. Indika, Nick Sireau, and Lakshminarayan Ranganath. "Alkaptonuria." In Genetic Syndromes. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-319-66816-1_1861-1.

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Al-Tubaikh, Jarrah Ali. "Ochronosis (Alkaptonuria)." In Internal Medicine. Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-642-03709-2_69.

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Hrnčíř, Zbyněk. "Alkaptonuria and Ochronosis." In Alkaptonuria and Ochronosis. Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-15108-3_2.

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Rovenský, Jozef, and Tibor Urbánek. "Therapy of Alkaptonuria." In Alkaptonuria and Ochronosis. Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-15108-3_25.

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Bošák, Vladimír. "Genetics of Alkaptonuria." In Alkaptonuria and Ochronosis. Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-15108-3_7.

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Rovenský, Jozef, Richard Imrich, Tibor Urbánek, and Vladimir Bošák. "Alkaptonuria and Ochronosis." In Gerontorheumatology. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-31169-2_19.

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Rovenský, Jozef. "Introduction." In Alkaptonuria and Ochronosis. Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-15108-3_1.

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Rovenský, Jozef, and Tibor Urbánek. "Ochronotic Arthropathy." In Alkaptonuria and Ochronosis. Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-15108-3_10.

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Rovenský, Jozef, and Tibor Urbánek. "Clinical Manifestation of Ochronotic Arthropathy in Spine." In Alkaptonuria and Ochronosis. Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-15108-3_11.

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Rovenský, Jozef, Mária Krátka, and Tibor Urbánek. "Analysis of X-Ray Symptomatology of Ochronotic Arthropathy in Spine." In Alkaptonuria and Ochronosis. Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-15108-3_12.

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Conference papers on the topic "Alkaptonuria"

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Biase, Carlo Di, Davide Romano, Ahmed Elshahat, and Stephen Kaye. "OP-1 Corneal changes in alkaptonuria." In Proceedings of the Bowman Club Meeting 2025. BMJ Publishing Group Ltd, 2025. https://doi.org/10.1136/bmjoo-2025-bca.1.

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Frediani, B., L. Millucci, G. Bernardini, et al. "SAT0620 Further evidences of secondary amyloidosis in alkaptonuria." In Annual European Congress of Rheumatology, EULAR 2018, Amsterdam, 13–16 June 2018. BMJ Publishing Group Ltd and European League Against Rheumatism, 2018. http://dx.doi.org/10.1136/annrheumdis-2018-eular.4645.

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Schmitt, D., S. vom Dahl, K. Mattes-György, et al. "Distribution patterns in Tc-99m-DPD bone scintigraphies in patients with alkaptonuria." In 61. Jahrestagung der Deutschen Gesellschaft für Nuklearmedizin. Georg Thieme Verlag, 2023. http://dx.doi.org/10.1055/s-0043-1766186.

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Köhler, J., D. Schöler, B. Förner, et al. "Therapie der Alkaptonurie mit Nitisinon: eine erste retrospektive Analyse bei 14 Patienten." In Viszeralmedizin 2021 Gemeinsame Jahrestagung Deutsche Gesellschaft für Gastroenterologie, Verdauungs- und Stoffwechselkrankheiten (DGVS), Sektion Endoskopie der DGVS, Deutsche Gesellschaft für Allgemein und Viszeralchirurgie (DGAV). Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1733765.

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Köhler, J., D. Schöler, B. Förner, et al. "Therapie der Alkaptonurie mit Nitisinon: eine erste retrospektive Analyse bei 14 Patienten." In Viszeralmedizin 2021 Gemeinsame Jahrestagung Deutsche Gesellschaft für Gastroenterologie, Verdauungs- und Stoffwechselkrankheiten (DGVS), Sektion Endoskopie der DGVS, Deutsche Gesellschaft für Allgemein und Viszeralchirurgie (DGAV). Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1733765.

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