Results 141 to 150 of about 2,793 (181)

Ochronotic arthropathy: skeletal manifestations and orthopaedic treatment. [PDF]

EFORT Open Rev
Salem KH, Elmoghazy AD.
europepmc   +1 more source

Ochronotic Arthropathy of the Shoulder - A Rare Case Report. [PDF]

J Orthop Case Rep
Nair AV, V K, Rajan A, Ms BB, Daware MA, Khan PS.   +5 more
europepmc   +1 more source

Total Hip Arthroplasty in Ochronotic Arthropathy with quadriceps tear. A Case Report with a Review of the Literature. [PDF]

J Orthop Case Rep
Agrawal AC, Baghel A, Garg AK, Rai A, Sakale H.   +4 more
europepmc   +1 more source

Diagnosing alkaptonuria-related nephropathy with urine albumin analysis. [PDF]

Pediatr Nephrol
Gülbahçe A, Muderrisoglu A.
europepmc   +1 more source

ALKAPTONURIA.

The Ceylon medical journal, 1996
F V, EDIRISINGHE, S N, TALWATTE, P, WEERASINGHE   +2 more
openaire   +1 more source

Alkaptonuria

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
core   +11 more sources

Alkaptonuria: A Case Report

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, Cetinkaya, R, Selcuk, Y, Karakuzu, A, Odabas, AR   +4 more
openaire   +4 more sources

Presentation of 14 alkaptonuria patients from Turkey

Journal of Pediatric Endocrinology and Metabolism, 2020
Background: Alkaptonuria (OMIM: 203500) is an inborn error of metabolism due to homogentisate 1,2-dioxygenase homogentisic acid 1,2 dioxygenase (HGD) enzyme deficiency.
Riza Koksal Özgül, Ali Dursun
exaly   +2 more sources

The potential of nitisinone for the treatment of alkaptonuria [PDF]

Expert Opinion on Orphan Drugs, 2019
Introduction: Alkaptonuria is an iconic disease, dating back to the Egyptians and has continued to prove a valuable teaching tool to many medics as an example of an inborn error of metabolism. In recent years, much progress has been made on understanding
Adam Michael Taylor
exaly   +5 more sources

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Alkaptonuria

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, M Cody, O'Dell, Brad, Homan, Christopher, Wasyliw   +3 more
openaire   +3 more sources