Results 101 to 110 of about 2,646 (192)
Alkaptonuria: An example of a "fundamental disease"-A rare disease with important lessons for more common disorders [PDF]
, 2016 Dillon, Jane P +4 more
core +1 more source
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
core +1 more source
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
core +2 more sources
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
core +3 more sources
Odlaganje homogentizinske kiseline u duge kosti s litičkim promjenama dijafiza u bolesnice s ohronozom [PDF]
, 2000 Presentation is made of a 58-year-old female patient with alkaptonuria and ochronosis. Calcification and ossification of intervertebral disks in the lumbar, thoracic and cervical spine were developed.
Ivo Jajić +2 more
core +1 more source
Indian Journal of Dermatology, Venereology, and Leprology, 2013 Avina, Jain +2 more
openaire +2 more sources
Proteomic analysis of osteoblasts secretome provides new insights in mechanisms underlying osteoarthritis subchondral bone sclerosis [PDF]
, 2018 Comblain, Fanny +5 more
core +1 more source
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
core +1 more source
A Not-So-Pleasant Surprise: Ochronotic Knee Encountered During Primary Arthroplasty
OsteologyBackground/Objectives: Ochronosis is an uncommon metabolic condition caused by a deficiency of homogentisate 1,2-dioxygenase, leading to the accumulation of homogentisic acid (HGA) in connective tissues. This deposition of HGA in the joints can result in
Bana Awad +4 more
doaj +1 more source