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Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints [PDF]
, 2015 core +1 more source
Enzyme immobilization in biodegradable polymers for biomedical applications [PDF]
, 2005 Azevedo, Helena S. +2 more
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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
semanticscholar +8 more sources
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
semanticscholar +8 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
openaire +3 more sources
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
Clinical presentation of 13 children with alkaptonuria
Journal of Inherited Metabolic Disease, 2023Until now, only a few studies have focused on the early onset of symptoms of alkaptonuria (AKU) in the pediatric population. This prospective, longitudinal study is a comprehensive approach to the assessment of children with recognized AKU during ...
M. Kujawa +17 more
semanticscholar +1 more source