Results 11 to 20 of about 3,621 (182)

Molecular Analysis of the HGD Gene in 9 Families With Alkaptonuric Ochronosis in Iran and Identification of Two Novel Variants. [PDF]

Mol Genet Genomic Med
There has been a wide range of mutations identified in the HGD gene in alkaptonuric patients. Some HGD mutations are spread worldwide, while others are specific to certain countries. Alkaptonuria has not been extensively studied in Iran; it is likely to be high since consanguineous marriages are common.
Azami A, Jahanpanah M, Marani YI, Mokhtari D, Mokaber H, Davarnia B.   +5 more
europepmc   +2 more sources

Clinical Images: Stubborn low back pain under the eyes. [PDF]

ACR Open Rheumatol
ACR Open Rheumatology, Volume 7, Issue 7, July 2025.
Gil W, Soubrier M.
europepmc   +2 more sources

Alkaptonuric ochronosis of the carotid artery

SAGE Open Medical Case Reports, 2020
Alkaptonuria is a rare autosomal-recessive metabolic disorder of tyrosine degradation which results in elevated levels of circulating homogentisic acid. Ochronosis occurs when homogentisic acid polymerizes and deposits in connective tissue.
Anand Shah, Andrew Son, Payam Salehi
doaj   +1 more source

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, Kenichi Shukuya, Masami Tanaka, Mariko Mouri, Ryunosuke Ohkawa, Midori Fujishiro, Tomoo Takahashi, Shigeo Okubo, Hiromitsu Yokota, Makoto Kurano, Hitoshi Ikeda, Seiji Yamaguchi, Shinobu Inagaki, Mika Ishige-Wada, Hiromi Usui, Yutaka Yatomi, Tatsuo Shimosawa   +16 more
doaj   +1 more source

Knee osteoarthrosis secondary to ochronosis -clinical case,

Revista Brasileira de Ortopedia, 2014
Alkaptonuria is a rare metabolic disease in which a deficiency of the enzyme homogentisate dioxygenase causes an accumulation of homogentisic acid. Ochronosis consists of excessive deposition of homogentisic acid in the connective tissue and presents as ...
Andreia Maria da Silva Martins Ferreira, Filipe Lima Santos, André Miguel Castro Costa, Bruno Miguel Pereira Barbosa, Rui Miguel Reis Rocha, Joaquim Fernando Fontes Lebre   +5 more
doaj   +1 more source

Differences in the “egumi” taste of moso-bamboo shoots: research using chemical analysis and two types of taste sensors

Journal of Wood Science, 2021
We conducted our research with the aim of determining whether the “egumi” taste of moso-bamboo shoots differs depending on the production area and how the “egumi” taste of bamboo shoots from Yamagata Prefecture, which is near the northern limit of ...
Yuka Furusawa, Hitoshi Nakamura, Tatsuya Ashitani   +2 more
doaj   +1 more source

Lower urinary tract symptoms and prostatic calculi: A rare presentation of alkaptonuria

Indian Journal of Urology, 2012
Alkaptonuria is a rare tyrosine metabolic disorder. A deficiency of homogentisic acid oxidase leads to accumulation of homogentisic acid in the body. Dark-colored urine, cutaneous pigmentations and musculoskeletal deformities are characteristic features.
F K Sridhar, R P Mukha, S Kumar, N S Kekre   +3 more
doaj   +1 more source

Selection and characterization of alanine racemase inhibitors against Aeromonas hydrophila

BMC Microbiology, 2017
Background Combining experimental and computational screening methods has been of keen interest in drug discovery. In the present study, we developed an efficient screening method that has been used to screen 2100 small-molecule compounds for alanine ...
Yaping Wang, Chao Yang, Wen Xue, Ting Zhang, Xipei Liu, Jiansong Ju, Baohua Zhao, Dong Liu   +7 more
doaj   +1 more source

Case Report: Ochronotic Arthropathy

Forbes Tıp Dergisi, 2021
Ochronosis is a rare metabolic disease caused by the deficiency of the homogentisic acid oxidase enzyme. It gives clinical findings related to the accumulation of homogentisic acid in soft tissues and excretion in urine. Patients with chronic arthropathy
Ülkü Dönmez, Ece Cinar, Cihat Ozturk, Simin Hepgüler   +3 more
doaj   +1 more source

Long-term result of arthroplasty in the treatment of a case of ochronotic arthropathy

Acta Orthopaedica et Traumatologica Turcica, 2016
Alkaptonuria is a rare metabolic disease caused by a partial or total deficiency of homogentisic acid oxidase, which results in excess homogentisic acid (HGA) levels.
Sinan Karaoğlu, Fatih Karaaslan, Musa Uğur Mermerkaya   +2 more
doaj   +1 more source