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A T Hughes Selected Research

nitisinone (Orfadin)

6/2022Temporal adaptations in the phenylalanine/tyrosine pathway and related factors during nitisinone-induced tyrosinaemia in alkaptonuria.
3/2022Characterization of changes in the tyrosine pathway by 24-h profiling during nitisinone treatment in alkaptonuria.
11/2019Quantification of the flux of tyrosine pathway metabolites during nitisinone treatment of Alkaptonuria.
5/2019Correction to: Assessing the effect of nitisinone induced hypertyrosinaemia on monoamine neurotransmitters in brain tissue from a murine model of alkaptonuria using mass spectrometry imaging.
1/2019Assessing the effect of nitisinone induced hypertyrosinaemia on monoamine neurotransmitters in brain tissue from a murine model of alkaptonuria using mass spectrometry imaging.
10/2018Data on items of AKUSSI in Alkaptonuria collected over three years from the United Kingdom National Alkaptonuria Centre and the impact of nitisinone.
1/2018Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment.
1/2018Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone.
1/2018Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre.
1/2018Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in Alkaptonuria.
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A T Hughes Research Topics

Disease

12Alkaptonuria
06/2022 - 07/2014
2Body Weight (Weight, Body)
06/2022 - 11/2019
2Ochronosis
10/2018 - 01/2018
2Disease Progression
01/2018 - 01/2018
1Weight Gain
06/2022
1Inborn Genetic Diseases (Disease, Hereditary)
10/2018
1Alkaptonuric ochronosis
01/2018
1Asthma (Bronchial Asthma)
12/2000

Drug/Important Bio-Agent (IBA)

11nitisinone (Orfadin)FDA Link
06/2022 - 01/2018
7Tyrosine (L-Tyrosine)FDA Link
06/2022 - 07/2014
4Homogentisic AcidIBA
11/2019 - 01/2018
2Urea (Carbamide)FDA LinkGeneric
06/2022 - 11/2019
2Neurotransmitter Agents (Neurotransmitter)IBA
05/2019 - 01/2019
1Phenylalanine (L-Phenylalanine)FDA Link
06/2022
1Proteins (Proteins, Gene)FDA Link
06/2022
1CreatinineIBA
06/2022
1PolymersIBA
10/2018
15-hydroxyindoleIBA
01/2018
1Amino AcidsFDA Link
01/2018
1Acetic Acid (Vinegar)FDA LinkGeneric
01/2018
1anti-IgE antibodiesIBA
12/2000

Therapy/Procedure

3Therapeutics
01/2018 - 01/2018
1Protein-Restricted Diet (Diet, Protein Restricted)
06/2022
1Slit Lamp
01/2018
1Aftercare (After-Treatment)
01/2018