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Alkaptonuria: Clinical Spectrum of a Diagnosed Case in Bahrain With a Literature Review. [PDF]

open access: yesCureus
Alsahlawi Z   +5 more
europepmc   +1 more source

A Curious Case of Purple Chromaturia. [PDF]

open access: yesCureus
Dhakal R   +4 more
europepmc   +1 more source
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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   +3 more
openaire   +3 more sources

Alkaptonuria

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
openaire   +2 more sources

Alkaptonuria

Nature Reviews Disease Primers
Alkaptonuria is a rare inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase activity. The consequent homogentisic acid (HGA) accumulation in body fluids and tissues leads to a multisystemic and highly debilitating disease whose main features are dark urine, ochronosis (HGA-derived pigment in collagen-rich connective ...
Bernardini, Giulia   +10 more
  +8 more sources

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