Results 21 to 30 of about 2,978 (184)
Acute-Onset Multifocal Hand Dysfunction Due to Alkaptonuria [PDF]
, 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
An Enigmatic Color Change of Urine: Alkaptonuria: Alkaptonuria [PDF]
, 2023 Alkaptonuria is an exceedingly rare tyrosine metabolism disorder of autosomal recessiveinheritance. Only a few instances of it have been observed in Bangladeshi children.
Majumder, Rita +5 more
core +1 more source
Possible Relationship Between Infertility And Alkaptonuria [PDF]
, 2013 Alkaptonuria is a rare metabolic disease which is not known to cause infertility up to now. Reported manifestations are mainly darkening of urine, ochronotic pigmentation of skin and various musculoskeletal symptoms.
Vural, Mehmet +3 more
core +4 more sources
Clinical Case Reports, 2022 Management of osteoporosis in patients with alkaptonuria can be challenging. This is the first case report confirming the effectiveness of teriparatide following zoledronic acid therapy in treating osteoporosis and preventing fragility fractures in a ...
Ismail C. Ebrahim +4 more
doaj +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
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 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
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
The potential of nitisinone for the treatment of alkaptonuria [PDF]
, 2019 Introduction: Alkaptonuria is an iconic disease, dating back to the Egyptians and has continued to prove a valuable teaching tool to many medics as an example of an inborn error of metabolism. In recent years, much progress has been made on understanding
Taylor, Adam, Shepherd, Laura
core +4 more sources
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