Results 41 to 50 of about 1,688 (193)

Tyrosinase, could it be a missing link in ochronosis in alkaptonuria? [PDF]

, 2016
The hypothesis that is proposed is that tyrosinase, an enzyme widely found within the human body is implicated in the ochronosis that occurs in alkaptonuria; an autosomal recessive condition first used by Archibald Garrod to describe the theory of ...
Bleakley, Aaron, Kammath, Vishnu, Taylor, Adam Michael   +2 more
core   +1 more source

Alkaptonuuriast põhjustatud aordiklapi kitsenemus, südame pärgarteri haigus, teisene osteoartroos ja nende kirurgiline ravi [PDF]

, 2013
Alkaptonuuria on haruldane, progresseeruv ja pöördumatu geneetiline ainevahetushaigus. Klassikalise kliinilise triaadina esinevad selle korral homogentisiinhappe eritus uriiniga, sidekoe (eriti kõhrkoe) pigmentatsioon ning degeneratiivne liigesepõletik ...
Jõeste, Enn, Kals, Jaak, Kass, Ants, Paapstel, Ants, Paapstel, Kaido, Peets, Tõnu   +5 more
core   +2 more sources

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

Expert Opinion on Orphan Drugs, 2019
ABSTRACTIntroduction: 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 metaboli...
Taylor, Adam, Shepherd, Laura
openaire   +1 more source

Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review

Orphanet Journal of Rare Diseases, 2017
Background Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal without treatment. With medication (nitisinone) and dietary restrictions outcomes are improved.
Julia Geppert, Chris Stinton, Karoline Freeman, Hannah Fraser, Aileen Clarke, Samantha Johnson, Paul Sutcliffe, Sian Taylor-Phillips   +7 more
doaj   +1 more source

Identification of Potential Inhibitors for the Treatment of Alkaptonuria Using an Integrated In Silico Computational Strategy

Molecules, 2023
Alkaptonuria (AKU) is a rare genetic autosomal recessive disorder characterized by elevated serum levels of homogentisic acid (HGA). In this disease, tyrosine metabolism is interrupted because of the alterations in homogentisate dioxygenase (HGD) gene ...
Sumera Zaib, Nehal Rana, Nadia Hussain, Hanan A. Ogaly, Ayed A. Dera, Imtiaz Khan   +5 more
doaj   +1 more source

Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment. [PDF]

, 2016
BACKGROUND: Alkaptonuria (AKU) is a serious genetic disease characterised by premature spondyloarthropathy. Homogentisate-lowering therapy is being investigated for AKU.
Andrea Zatkova, Andrew T Hughes, Anna M Milan, Annalisa Santucci, Anthony K Hall, Arvid Cronlund, Birgitta Olsson, Carin Junestrand, Christa van Kan, Daniela Braconi, Dinny Laan, Eftychia E Psarelli, Federica Genovese, Gordon Ross, Hana Ayoob, Helen Bygott, Helliwell, Hughes, Introne, James A Gallagher, Johan Szamosi, John J Dutton, Jonathan C Jarvis, Jozef Rovensky, Judith McCaffrey, Kim-Hanh Le Quan Sang, La Du, Lakshminarayan R Ranganath, Lennart Svensson, Lindstedt, Martina Nemethova, Mattias Rudebeck, McKiernan, Michael C Briggs, Milch, Nicolas Sireau, O'Brien, Oliver G Timmis, Peter Christensen, Phornphutkul, Preston, Ranganath, Ranganath, Richard Fitzgerald, Richard Imrich, Stewart, Suwannarat, Tinti, Torbjörn Kullenberg, Trevor F Cox, Zannoni, Zatkova   +51 more
core   +1 more source

Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review

Frontiers in Pediatrics, 2021
Background: Hereditary tyrosinemia type 1 is a rare genetic disorder leading to liver cirrhosis and hepatocellular carcinoma. Few decades ago, dietary measures and ultimately liver transplant constituted the only treatment modalities.
Karim N. Daou, Abir Barhoumi, Abir Barhoumi, Amina Bassyouni, Pascale E. Karam, Pascale E. Karam   +5 more
doaj   +1 more source

Alkaptonuria [PDF]

, 2013
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA).
Bukhari, Marwan, Mistry, Jemma, Taylor, Adam   +2 more
core   +1 more source

Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria Centre

JIMD Reports, 2020
Background Increased homogentisic acid (HGA) causes ochronosis. Nitisinone decreases HGA. The aim was to study the effect of nitisinone on the ochronosis progression.
Lakshminarayan R. Ranganath, Anna M. Milan, Andrew T. Hughes, Milad Khedr, Andrew S. Davison, Peter J. Wilson, Jane P. Dillon, Elizabeth West, James A. Gallagher   +8 more
doaj   +1 more source

Dietary restriction of tyrosine and phenylalanine lowers tyrosinaemia associated with nitisinone therapy of alkaptonuria. [PDF]

, 2020
BACKGROUND: Alkaptonuria (AKU) is caused by homogentisate 1,2-dioxygenase deficiency that leads to homogentisic acid (HGA) accumulation, ochronosis and severe osteoarthropathy.
Bou-Gharios, G, Gallagher, JA, Hughes, AT, Hughes, JH, Jarvis, JC, Judd, S, Milan, AM, Ranganath, LR, Sutherland, H, Wilson, PJM   +9 more
core   +2 more sources