Andrew T Hughes Selected Research

Alkaptonuria

7/2022	Method development and validation for analysis of phenylalanine, 4-hydroxyphenyllactic acid and 4-hydroxyphenylpyruvic acid in serum and urine.
7/2022	Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism.
1/2022	Comparing nitisinone 2 mg and 10 mg in the treatment of alkaptonuria-An approach using statistical modelling.
9/2020	Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria Centre.
5/2020	The nutritional status of people with alkaptonuria: An exploratory analysis suggests a protein/energy dilemma.
1/2020	Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial.
1/2020	Nitisinone causes acquired tyrosinosis in alkaptonuria.
1/2020	Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria.
1/2020	Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria.
12/2019	Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria.

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Andrew T Hughes Research Topics

Disease

17	Alkaptonuria 07/2022 - 01/2015
4	Ochronosis 09/2020 - 01/2020
3	Disease Progression 01/2022 - 01/2020
2	Tyrosinemias (Tyrosinemia) 01/2020 - 01/2019
2	Inborn Genetic Diseases (Disease, Hereditary) 12/2019 - 01/2015
1	Tyrosinosis 01/2020
1	Osteoarthritis 09/2015

Drug/Important Bio-Agent (IBA)

13	Homogentisic AcidIBA 09/2020 - 01/2015
11	nitisinone (Orfadin)FDA Link 01/2022 - 01/2015
10	Tyrosine (L-Tyrosine)FDA Link 07/2022 - 01/2015
5	Homogentisate 1,2-Dioxygenase (Homogentisate 1,2 Dioxygenase)IBA 07/2022 - 09/2015
2	EnzymesIBA 07/2022 - 07/2022
2	Biomarkers (Surrogate Marker)IBA 05/2020 - 09/2015
1	ZincIBA 05/2020
1	Vitamin D FDA LinkGeneric 05/2020
1	Proteins (Proteins, Gene)FDA Link 05/2020
1	SeleniumIBA 05/2020
1	Serum AlbuminIBA 05/2020
1	Ascorbic Acid (Vitamin C)FDA LinkGeneric 05/2020
1	NitrogenIBA 05/2020
1	Phenylalanine (L-Phenylalanine)FDA Link 01/2020
1	Amino Acids FDA Link 01/2020
1	Dietary ProteinsIBA 01/2020

Therapy/Procedure

6	Therapeutics 09/2020 - 09/2015
1	Diet Therapy (Therapy, Diet) 01/2020