Alkaptonuria: An example of a "fundamental disease"-A rare disease with important lessons for more common disorders [PDF]
, 2016 Dillon, Jane P +4 more
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Coexistence of Ochronosis and B 27 Positive Ankylosing Spondylitis [PDF]
, 2007 We describe a 49-year-old man with coexistence of ochronosiss and B 27 positive ankylosing spondylitis. This is the first report documenting the simultaneous occurrence of ochronosis and B27 positive ankylosing spondylitis, with no positive familiar ...
Božidar Ćurković +7 more
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Making rareness count: testing and pricing orphan drugs [PDF]
, 2016 This paper examines the testing and the pricing of orphan drugs, e.g. drugs for patients suffering from rare diseases. Due to the small size of these populations, orphan molecules question established evidentiary practices, namely randomized controlled ...
Doganova, Liliana, Rabeharisoa, Vololona
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Determination of hydroquinone in food and pharmaceutical samples using a voltammetric based sensor employing NiO nanoparticle and ionic liquids [PDF]
A sensitive modified carbon paste electrode (MCPE) employing NiO nanoparticle (NiO/NPs) and 1-butyl-3- methylimidazolium tetrafluoroborate (BMITFB) ionic liquid was used for trace level analysis of hydroquinone (HQ) in aqueous solution.
Ahmadzadeh, Saeid +2 more
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Alcaptonuria and Ochronosis with Diabetes Mellitus and Mycosis Fungoides: A Case Report [PDF]
, 1969 A Negro woman with alcaptonuria, ochronosis, ochronotic arthropathy, diabetes mellitus and mycosis fungoides died of acute renal failure due to diabetic glomerulonephropathy and ochronotic nephrosis.
Haq, Jamshed U., Patton, Roy B.
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Alkaptonuria Presenting with Back Pain: A Diagnostic Dilemma [PDF]
Alkaptonuria is a rare inborn error of metabolism due to a deficiency of homogentisate 1,2 dioxygenase, resulting in homogentisic acid accumulation in tissues. It is characterised by homogentisic aciduria, ochronosis, and arthritis.
Arora, Dyuksha +2 more
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Indian Journal of Dermatology, Venereology, and Leprology, 2013 Avina, Jain +2 more
openaire +2 more sources
An elderly diabetic case of ochronosis with depression and chronic pain [PDF]
, 2010 Alkaptonuria (ochronosis) is a rare autosomal recessive disorder featuring a genetic error in the amino acid metabolism. A defect in the tyrosine metabolism results in the accumulation and deposition of homogentisic acid in connective tissue, causing a ...
Ak, Mehmet +5 more
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Proteomic analysis of osteoblasts secretome provides new insights in mechanisms underlying osteoarthritis subchondral bone sclerosis [PDF]
, 2018 Comblain, Fanny +5 more
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