Identification and characterization of BAHD hydroxycinnamoyltransferases in the fern Neoblechnum brasiliense. [PDF]
Plant JSignificance Statement Nine BAHD acyltransferases have been identified and characterized in the fern Neoblechnum brasiliense transferring hydroxycinnamoyl units onto various alcohol and amine acceptor substrates. Kinetic characterization showed that shikimic and quinic acids for ester formation as well as 3‐hydroxyanthranilic acid and tryptamine for ...
Ufland M, Petersen M.
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Alkaptonuria - Case report [PDF]
Anais Brasileiros de Dermatologia, 2014 Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues.
Fernanda Helena Craide +5 more
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Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria [PDF]
Human Mutation, 2009 Vilboux T +9 more
exaly +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 +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 +5 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 +3 more
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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 +2 more
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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 +2 more
doaj +1 more source
Molecular Analysis of the HGD Gene in 9 Families With Alkaptonuric Ochronosis in Iran and Identification of Two Novel Variants. [PDF]
Mol Genet Genomic MedThere 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 +5 more
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