KSIĄŻKI POWIĄZANE ZE SŁOWEM «ALKAPTONURIA»
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Alkaptonuria and Ochronosis - Strona 26
Lancet 2, 1616– 1620 (1902) Goicoechea de Jorge, E., Lorda, L., Gallardo, M.E., Pérez, B., Pérez de Ferrán, C., Mendoza, H., Rodriguez de Córdoba, S.: Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and ...
Jozef Rovenský, Tibor Urbánek, Oľga Boldišová, 2015
2
Amino Acid Metabolism Disorders: Phenylketonuria, ...
Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online.
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NORD Guide to Rare Disorders - Strona 431
DEFINITION: Alkaptonuria is an inborn error of metabolism due to deficiency of homogentisate 1,2-dioxygenase, an enzyme in the tyrosine degradation pathway. Homogentisic acid accumulation results in urine that turns dark upon standing, ...
National Organization for Rare Disorders, 2003
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Biochemistry - Strona 272
Urine from a patient with alkaptonuria || || 2. After two hours, the - urine is entirely black. The specimen on the left, # which has been standing for fifteen minutes, shows some darkening at the surface, due to the oxidation of homogenisic acid.
Pamela C. Champe, Richard A. Harvey, Denise R. Ferrier, 2005
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Genodermatoses: A Clinical Guide to Genetic Skin Disorders
Alkaptonuria Albers SE, Brozena SJ, Glass LF, et al. Alkaptonuria and ochronosis: case report and review. I Am Acad Dermatol 1992:27:609-614. Beltran-Valero de Bernabe D, Peterson P, Luopajarvi K, et al. Mutational analysis of the HGO ...
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Atlas of Inherited Metabolic Diseases 3E - Strona 110
The incidence of alkaptonuria: a study in chemical individuality. Lancet 1902; 2: 1616. 2. Garrod AE. Inborn Errors of Metabolism. London: Oxford University Press, 1908: 1523. 3. Beadle GW, Tatum EL. Genetic control of biochemical reactions ...
William L Nyhan, Bruce A Barshop, Aida I Al-Aqeel, 2011
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An Introduction to Human Molecular Genetics: Mechanisms of ...
(1970) presented evidence that ascorbic acid in high doses decreases binding of C(14)-homogentisic acid (HGA) in connective tissues of rats with experimental alkaptonuria. Long-term therapy in young patients with alkaptonuria is indicated.
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Atlas of Metabolic Diseases Second edition - Strona 126
NTBC in alkaptonuria.Am J Hum Genet 1998;63:920. Phornphutkul C, Introne WJ, Perry MB,et al. Natural history of alkaptonuria. N Engl J Med 2002;347:2111. Fishberg EH. The instantaneous diagnosis of alkaptonuria on a single drop of ...
William L Nyhan, Bruce A Barshop, Pinar T. Ozand, 2005
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Encyclopedia of Human Genetics and Disease - Tom 1 - Strona 63
He diagnosed the condition as alkaptonuria, a rare condition in which alcapton is not broken down and builds up in the bloodstream. When talking to the family, he found that five family members had the same symptoms. Garrod surmised that ...
Evelyn B. Kelly Ph.D., 2013
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Spontaneous Animal Models of Human Disease - Strona 65
These symptoms complete the alkaptonuric triad of homogentisic acid in the urine, ochronosis, and arthritis. Alkaptonuria is considered to be inherited as a Mendelian recessive trait in man although dominant inheritance has been documented ...
Edwin J. Andrews, Billy C. Ward, Norman H. Altman, 2012
WIADOMOŚCI, KTÓRE ZAWIERAJĄ SŁOWO «ALKAPTONURIA»
Sprawdź, o czym dyskutuje się w prasie krajowej i zagranicznej oraz jak jest stosowane słowo
alkaptonuria w wiadomościach.
Pea the precursor
Garrod found that in a majority of individuals suffering from alkaptonuria, their parents were found to have been first cousins or a close relative. The explanation ... «Deccan Herald, Wrz 15»
Sion man's 'curse' turns out to be genetic disorder
Now, doctors have revealed that he suffers from alkaptonuria or the Black Bone ... Black Bone Disease or Alkaptonuria is caused due to lack of an enzyme called ... «Mumbai Mirror, Maj 15»
Meet Cambridge dad Nick Sireau, who quit his job to find a cure for …
When Nick Sireau's sons were diagnosed with alkaptonuria, or 'black bone disease', he decided to give up his job to find a cure - and now he's helping others to ... «Cambridge News, Mar 15»
Twelve novel HGD gene variants identified in 99 alkaptonuria …
Alkaptonuria (AKU) is an autosomal recessive disorder caused by mutations in homogentisate-1,2-dioxygenase (HGD) gene leading to the deficiency of HGD ... «Nature.com, Mar 15»
Royal Liverpool Hospital using weedkiller to treat black bone disease
In a pioneering trial at Royal Liverpool Hospital, patients with alkaptonuria (AKU) – known as black bone disease – are being given something called nitisinone. «Liverpool Echo, Sty 15»
Will Indiegogo's new personal-cause site help it stand out in the …
... to fund research for Alkaptonuria, or “Black Bone Disease,” which afflicted his two sons. Campaigns like these will still appear on Indiegogo.com. The new site ... «Fortune, Gru 14»
Human trials show drug success for treatment of genetic bone disease
Tyrosine is broken down in alkaptonuria patients, producing a substance called homogentisic acid (HGA), most of which is eliminated in the urine, but some is ... «Medical Xpress, Gru 14»
RZADKA CHOROBA CZARNYCH KOŚCI, CZYLI ALKAPTONURIA
Alkaptonuria (AKU) jest rzadką, wyniszczającą chorobą genetyczną, nazywaną chorobą czarnych kości, na którą chorują także Polacy. Dotychczas pozostawała ... «Wiadomosci 24, Paz 14»
Black Pee Disease Offers New View of Arthritic Joints
Alkaptonuria “A new cause of osteoarthritis identified by research on a rare disease,” ran the headline of a news release a few weeks ago. I was drawn to “rare ... «PLoS Blogs, Wrz 14»
A new cause of osteoarthritis identified by research on a rare disease
To confirm the findings, the team studied eight hips donated for research by people with osteoarthritis and found the same results as in the alkaptonuria patient. «EurekAlert, Sie 14»
