Results 21 to 30 of about 3,621 (182)
Total knee arthroplasty in ochronosis
Alkaptonuria is disorder of tyrosine metabolism due to deficiency of homogentisic oxidase characterized by excretion of homogentisic acid in urine, deposition of oxidized homogensitate pigments in connective tissues and articular cartilages (ochronosis).
Vaibhav G. Patel, MBBS
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An Unusual Presentation of Ochronosis with Palmar Pigmentation [PDF]
Ochronosis is the deposition of homogentisic acid in connective tissues resulting in bluish black discolouration. Hereby a case of ochronosis over the palmar surface of hand in 41-year-old male patient has been reported.
Mohan Rao Nandam +4 more
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An Uncommon Clinical Presentation of a Rare Disease-Alkaptonuria: Case Report
Palmoplantar pigmentation is a rare clinical presentation of alkaptonuria, a rare inborn error of phenylalanine and tyrosine metabolism. Alkaptonuria occurs owing to a deficiency of an enzyme homogentisic acid oxidase inherited as an autosomal ...
Umar Abdul Ali Qureshi +1 more
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Determination of Homogentisic Acid in Urine
Abstract A relatively simple method for the quantitative determination of homogentisic acid in urine is presented. Homogentisic acid (2,5-dihydroxyphenylacetic acid) is oxidized by atmospheric oxygen in mild alkali to form 1,4-benzoquinone-2-acetic acid. The latter compound is then conjugated with 2,4-dinitrophenylhydrazine.
R E, Stoner, B, Blivaiss
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Urinary Homogentisic Acid in Alkaptonuric and Healthy Children [PDF]
To detect and follow-up the metabolic status of patients with alkaptonuria (AKU), urinary homogentisic acid (HGA) was measured by gas chromatography. These results were close to values we obtained by colorimetric method (linearity: upto 700 mg/l, detection limit: 1 mg/l, within-run imprecision (CV): 1.2% at 100 mg/l HGA, 4.9% at 10 mg/l, between-run CV:
Anna V, Oláh +5 more
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Alkaptonuria: A rare cause of recurrent severe back pain in the emergency department [PDF]
We report a 45 year-old male patient who presented to the emergency department of Hamad General Hospital with recurrent severe low back pain. Clinical examination revealed characteristic deposition of blue-brownish pigment in the sclera and ear.
MSeidahmed +2 more
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Knee ochronotic arthropathy and arthroscopic findings
Ochronotic arthropathy is a rare condition found in patients with alkaptonuria which is a hereditary metabolic disease associated with deposition of homogentisic acid derivatives in the articular cartilage, menisci, ligaments, and connective tissues due ...
Cemal Kural +4 more
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Alkaptonuria is a rare, autosomal-recessive disorder of phenylalanine/tyrosine metabolism due to congenital deficiency of the enzyme homogentisic acid oxidase. Herein, we are reporting a classical case of alkaptonuria with extensive skin pigmentation and
Swapna S Khatu +4 more
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A case of alkaptonuria, a rare disorder with autosomal recessive inheritance, is reported here. The patient had palmar pigmentation in addition to the usual features of alkaptonuria.
G K Tharini +4 more
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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
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