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Erratum to 'Long-Term Outcomes of the Knee and Hip Arthroplasties in Patients with Alkaptonuria' [Arthroplasty Today. Volume 6, Issue 4, December 2020, Pages 689-693]. [PDF]
Arthroplast TodayAl-Ajlouni JM +8 more
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JAMA Dermatology
This case report describes a man in his 50s with progressive blue-gray discoloration of sun-exposed areas, including the nose, cheeks, ears, and hands.
Aamir, Habib, Moizza, Tahir, Asma, Malik
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This case report describes a man in his 50s with progressive blue-gray discoloration of sun-exposed areas, including the nose, cheeks, ears, and hands.
Aamir, Habib, Moizza, Tahir, Asma, Malik
+12 more sources
European Journal of Human Genetics, 2021
Alkaptonuria is characterized by the accumulation of homogentisic acid (HGA), part of which is excreted in the urine but the excess HGA forms a dark brown ochronotic pigment that deposits in the connective tissue (ochronosis), eventually leading to early-onset severe arthropathy.
Andrea Soltysova +3 more
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Alkaptonuria is characterized by the accumulation of homogentisic acid (HGA), part of which is excreted in the urine but the excess HGA forms a dark brown ochronotic pigment that deposits in the connective tissue (ochronosis), eventually leading to early-onset severe arthropathy.
Andrea Soltysova +3 more
openaire +2 more sources
Orthopedics, 2016
A 50-year-old woman with a chronic polyarthropathy was seen by her orthopedist for long-standing back and shoulder and worsening hip pain. A lateral labral tear and chronic trochanteric bursitis were diagnosed on hip magnetic resonance imaging, which was otherwise unremarkable.
Emmanuel, Bassily +3 more
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A 50-year-old woman with a chronic polyarthropathy was seen by her orthopedist for long-standing back and shoulder and worsening hip pain. A lateral labral tear and chronic trochanteric bursitis were diagnosed on hip magnetic resonance imaging, which was otherwise unremarkable.
Emmanuel, Bassily +3 more
openaire +2 more sources
The Indian Journal of Pediatrics, 1958
A case of alkaptonuria with pigmented gums in an Indian child of five and a half years of age is presented. Our aim in presenting this case is to draw attention to this rare inborn metabolic error particularly because the presenting complaints may be almost negligible; to assess properly the significance of a positive reduction test whenever urine is ...
S, VAISHNAVA, B M, PULIMOOD
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A case of alkaptonuria with pigmented gums in an Indian child of five and a half years of age is presented. Our aim in presenting this case is to draw attention to this rare inborn metabolic error particularly because the presenting complaints may be almost negligible; to assess properly the significance of a positive reduction test whenever urine is ...
S, VAISHNAVA, B M, PULIMOOD
openaire +2 more sources
Journal of Inherited Metabolic Disease, 2015
AbstractAlkaptonuria (AKU) is an ultra‐rare inborn error of metabolism developed from the lack of homogentisic acid oxidase activity, causing homogentisic acid (HGA) accumulation that produces an HGA‐melanin ochronotic pigment, of hitherto unknown composition. Besides the accumulation of HGA, the potential role and presence of unidentified proteins has
MILLUCCI, LIA +6 more
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AbstractAlkaptonuria (AKU) is an ultra‐rare inborn error of metabolism developed from the lack of homogentisic acid oxidase activity, causing homogentisic acid (HGA) accumulation that produces an HGA‐melanin ochronotic pigment, of hitherto unknown composition. Besides the accumulation of HGA, the potential role and presence of unidentified proteins has
MILLUCCI, LIA +6 more
openaire +4 more sources
Journal of Inherited Metabolic Disease, 2016
AbstractAlkaptonuria (AKU) is a rare genetic disease that affects the entire joint. Current standard of AKU treatment is palliative and little is known about its physiopathology. Neovascularization is involved in the pathogenesis of systemic inflammatory rheumatic diseases, a family of related disorders that includes AKU.
MILLUCCI, LIA +10 more
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AbstractAlkaptonuria (AKU) is a rare genetic disease that affects the entire joint. Current standard of AKU treatment is palliative and little is known about its physiopathology. Neovascularization is involved in the pathogenesis of systemic inflammatory rheumatic diseases, a family of related disorders that includes AKU.
MILLUCCI, LIA +10 more
openaire +3 more sources
The Journal of Dermatology, 2001
AbstractAlkaptonuria is a rare, autosomally recessive, metabolic disorder caused by a deficiency in homogentisic acid oxidase. It results in accumulation and deposition of homogentisic acid in cartilage, eyelids, forehead, cheeks, axillae, genital regions, nail beds, buccal mucosa, larynx, tympanic eardrum, and the tendons.
Erdem, T +4 more
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AbstractAlkaptonuria is a rare, autosomally recessive, metabolic disorder caused by a deficiency in homogentisic acid oxidase. It results in accumulation and deposition of homogentisic acid in cartilage, eyelids, forehead, cheeks, axillae, genital regions, nail beds, buccal mucosa, larynx, tympanic eardrum, and the tendons.
Erdem, T +4 more
openaire +3 more sources