Results 121 to 130 of about 5,440 (220)

Age related deviation of gait from normality in alkaptonuria. [PDF]

Alkaptonuria is a rare metabolic disease leading to systemic changes including early and severe arthropathy which affects mobility. Due to unknown reasons, the onset of degenerative changes is delayed to around 30 years of age when both objective and ...
Barton, GJ, Hawken, MB, King, SL, Ranganath, LR, Robinson, MA   +4 more
core  

Absorbance measurements of oxidation of homogentisic acid accelerated by the addition of alkaline solution with sodium hypochlorite pentahydrate. [PDF]

Sci Rep, 2018
Tokuhara Y, Shukuya K, Tanaka M, Sogabe K, Ejima Y, Hosokawa S, Ohsaki H, Morinishi T, Hirakawa E, Yatomi Y, Shimosawa T.   +10 more
europepmc   +1 more source

Secondary osteoarthritis due to alkaptonuria: a case report [PDF]

Journal of Research in Applied and Basic Medical Sciences
Background & Aims: Alkaptonuria is a rare autosomal recessive genetic disorder caused by a deficiency of homogentisate 1,2-dioxygenase, leading to the accumulation of homogentisic acid.
Sabina Lois, Aruna Veeruswamy, Kamalanathan Kulandaivelu, Mohan Prasad Muthusamy, Yee Tun Oo   +4 more
doaj  

Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria. [PDF]

Hum Mol Genet, 2019
Hughes JH, Liu K, Plagge A, Wilson PJM, Sutherland H, Norman BP, Hughes AT, Keenan CM, Milan AM, Sakai T, Ranganath LR, Gallagher JA, Bou-Gharios G.   +12 more
europepmc   +1 more source

Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots. [PDF]

JIMD Rep, 2017
Jacomelli G, Micheli V, Bernardini G, Millucci L, Santucci A.   +4 more
europepmc   +1 more source

Ochronotic Deposition in Alkaptonuria: Semiquinone-Mediated Oxidative Coupling and Metabolic Drivers of Homogentisic Acid Accumulation. [PDF]

Int J Mol Sci
Grasso D, Balloni V, Baratto MC, Mucci A, Santucci A, Bernini A.   +5 more
europepmc   +1 more source

A case of alkaptonuria presenting with unexplained dark-stained diapers and spurious hyperoxaluria and proteinuria due to homogentisic acid interference. [PDF]

Biochem Med (Zagreb)
Vanhove T, Aertgeerts M, Witters P, Rymen D, Böckenhauer D, Frans G, Vermeersch P.   +6 more
europepmc   +1 more source

Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria. [PDF]

JIMD Rep, 2017
Taylor AM, Vercruysse KP.
europepmc   +1 more source

HOMOGENTISIC ACID OXIDASE

Journal of Biological Chemistry, 1955
openaire   +1 more source

Observations on the oxidation of homogentisic acid in urine [PDF]

Biochemical Journal, 1951
R, CONSDEN, H A W, FORBES, L E, GLYNN, W M, STANIER   +3 more
openaire   +2 more sources