Results 21 to 30 of about 2,793 (181)
Orphanet Journal of Rare Diseases, 2023 Alkaptonuria is a rare inherited disorder for which there was no disease-modifying treatment. In order to develop a successful approved therapy of AKU multiple barriers had to be overcome.
L. R. Ranganath, Nick Sireau
doaj +1 more source
Acute-Onset Multifocal Hand Dysfunction Due to Alkaptonuria
, 2023 Alkaptonuria is a rare metabolic disorder characterized by the accumulation of homogentisic acid. Its effects on the central nervous system are well-recognized; however, cases of pathologic homogentisic acid deposition in the peripheral nervous system ...
Brahman Shankar Sivakumar +9 more
core +1 more source
TNOA Journal of Ophthalmic Science and Research, 2021 A 58-year-old male came to the ophthalmology outpatient department with complaints of blackish discoloration in both eyes, which he noticed 6 months back.
Suriya Djeamourthy +3 more
doaj +1 more source
Detection of homogentisic acid by electrospray ionization mass spectrometry
Journal of Clinical Laboratory Analysis, Volume 37, Issue 21-22, November 2023., 2023 We identified the molecular ion of HGA in all sample solutions by ESI‐MS, regardless of different pH conditions, color changes, or the presence of AA. These results suggest that spectral analysis by ESI‐MS is suitable for the detection of HGA and the diagnosis of alkaptonuria.
Yasunori Tokuhara +4 more
wiley +1 more source
Dermatology Online Journal, 2010 A 69-year-old woman presented with a 30-year history of lower back and large joint pain of the hips and shoulders. On examination blue-grey, pigmented macules were present over the cartilaginous portions of the ears and on the sclera. Past medical history included aortic stenosis.
Yancovitz, Molly +2 more
+9 more sources
Detection of novel visible-light region absorbance peaks in the urine after alkalization in patients with alkaptonuria. [PDF]
PLoS ONE, 2014 BACKGROUND: Alkaptonuria, caused by a deficiency of homogentisate 1,2-dioxygenase, results in the accumulation of homogentisic acid (2,5-dihydroxyphenylacetic acid, HGA) in the urine.
Yasunori Tokuhara +16 more
doaj +1 more source
A Kuhnian revolution in molecular biology: Most genes in complex organisms express regulatory RNAs
BioEssays, Volume 45, Issue 9, September 2023., 2023 Abstract Thomas Kuhn described the progress of science as comprising occasional paradigm shifts separated by interludes of ‘normal science’. The paradigm that has held sway since the inception of molecular biology is that genes (mainly) encode proteins.
John S. Mattick
wiley +1 more source
Clinical Case Reports, Volume 11, Issue 9, September 2023., 2023 Key Clinical Message In this case report, total knee arthroplasty was performed in a patient with pigmented villonodular synovitis. During surgery, severe black discoloration of the articular cartilage and menisci was observed in the patient. According to literatures, this is the first case report of severe articular cartilage pigmentation in a patient
Mohammad Ayati Firoozabadi +4 more
wiley +1 more source
Ophthalmological Manifestations of Alkaptonuria
Oftalʹmologiâ, 2022 Alkaptonuria is rare autosomal recessive multisystem disease, caused by mutations in the homogentisine oxidase gene, which leads to the deposition of metabolites of homogentisic acid in organs and tissues (ochronosis).The purpose: to study spectrum of ...
E. V. Denisova, A. V. Kuzin
doaj +1 more source
Living with alkaptonuria [PDF]
BMJ, 2011 Simon Laxon, who was diagnosed with a rare genetic disorder, alkaptonuria, soon after birth, describes his journey in understanding the condition and finding hope for a cure I was born in 1966, and within a few days of my birth my parents knew that something was wrong.
Simon, Laxon +2 more
openaire +2 more sources