La ricerca sulle malattie rare non potrebbe procedere senza i campioni bioptici che i pazienti sottoposti ad operazioni hanno donato e donano. I campioni verrebbero mandati all'inceneritore, invece con la loro donazione possono aiutare a scoprire i meccanismi con cui agisce la malattia.

 

Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria DOWNLOAD
Post-genomics of bone metabolic dysfunctions and neoplasias DOWNLOAD
Homogentisic acid induces aggregation and fibrillation of amyloidogenic proteins DOWNLOAD
Redox proteomics gives insights into the role of oxidative stress in alkaptonuria DOWNLOAD
Oxidative stress and mechanisms of ochronosis in alkaptonuria DOWNLOAD
Comparative proteomics in alkaptonuria provides insights intoinflammation and oxidative stress DOWNLOAD
Proteomic and Redox-Proteomic Evaluation of Homogentisic Acid and Ascorbic Acid Effects on Human Articular Chondrocytes DOWNLOAD
Biochemical and Proteomic Characterization of Alkaptonuric Chondrocytes DOWNLOAD
Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis DOWNLOAD
Evaluation of anti-oxidant treatments in an in vitro model of alkaptonuric ochronosis DOWNLOAD
ULTRASOUND ASSESSMENT OF JOINTS AND ENTHESIS IN A COHORT OF PATIENTS AFFECTED BY OCHRONOSIS: HOW MUCH IS COMMON THE INFLAMMATORY INVOLVEMENT? DOWNLOAD
Smoothened-antagonists reverse homogentisic acid-induced alterations of Hedgehog signalling and primary cilium length in alkaptonuria DOWNLOAD
Cytoskeleton aberrations in alkaptonuric chondrocytes DOWNLOAD
Homogentisate 1,2 Dioxygenase is Expressed in Human Osteoarticular Cells: Implications in Alkaptonuria DOWNLOAD
Inhibition of para-Hydroxyphenylpyruvate Dioxygenase by Analogues of the Herbicide Nitisinone As a Strategy to Decrease Homogentisic Acid Levels, the Causative Agent of Alkaptonuria DOWNLOAD
Alkaptonuria is a novel human secondary amyloidogenic disease DOWNLOAD
Histological and Ultrastructural Characterization of Alkaptonuric Tissues DOWNLOAD
Diagnosis of secondary amyloidosis in alkaptonuria DOWNLOAD
Angiogenesis in alkaptonuria DOWNLOAD
Secondary amyloidosis in an alkaptonuric aortic valve DOWNLOAD
Chondroptosis in Alkaptonuric Cartilage DOWNLOAD
Amyloidosis in alkaptonuria DOWNLOAD
Angiogenesis in alkaptonuria DOWNLOAD
Amyloidosis, Inflammation, and Oxidative Stress in the Heart of an Alkaptonuric Patient DOWNLOAD
A new light on Alkaptonuria: A Fourier-transform infrared microscopy (FTIRM) and low energy X-ray fluorescence (LEXRF) microscopy correlative study on a rare disease DOWNLOAD
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy DOWNLOAD
Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1) DOWNLOAD
4‑Hydroxyphenylpyruvate Dioxygenase and Its Inhibition in Plants and Animals DOWNLOAD
False proteinuria in patients with alkaptonuria DOWNLOAD
ApreciseKUre: an approach of Precision Medicine in a Rare Disease DOWNLOAD
Antioxidants inhibit SAA formation and pro-inflammatory cytokine release in a human cell model of alkaptonuria DOWNLOAD
A novel ex vivo organotypic culture model of alkaptonuria-ochronosis DOWNLOAD
Evaluation of Antioxiodant Drugs for the Treatment of Ochronotic Alkaptonuria in An In Vitro Human Cell Model DOWNLOAD
Development of an in vitro model to investigate joint ochronosis in alkaptonuria DOWNLOAD