Milad Khedr Selected Research

Homogentisic Acid

9/2022	Revisiting Quantification of Phenylalanine/Tyrosine Flux in the Ochronotic Pathway during Long-Term Nitisinone Treatment of Alkaptonuria.
7/2022	Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients.
9/2021	Vitiligo, alkaptonuria, and nitisinone-A report of three families and review of the literature.
1/2021	Characterizing the alkaptonuria joint and spine phenotype and assessing the effect of homogentisic acid lowering therapy in a large cohort of 87 patients.
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	Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria.
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.
7/2019	Evaluation of the serum metabolome of patients with alkaptonuria before and after two years of treatment with nitisinone using LC-QTOF-MS.

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Milad Khedr Research Topics

Disease

14	Alkaptonuria 10/2022 - 05/2017
4	Ochronosis 01/2021 - 01/2020
3	Disease Progression 01/2022 - 01/2020
2	Spondylarthropathies 10/2022 - 01/2021
1	Cardiovascular Diseases (Cardiovascular Disease) 01/2023
1	Atherosclerosis 01/2023
1	Spondylosis 10/2022
1	Spinal Diseases (Disease, Spinal) 10/2022
1	Hyperostosis 10/2022
1	Osteophyte 10/2022
1	Cataract (Cataracts) 07/2022
1	Dyspepsia (Indigestion) 09/2021
1	Vitiligo 09/2021
1	Tyrosinosis 01/2020
1	Hyperparathyroidism 04/2013

Drug/Important Bio-Agent (IBA)

12	nitisinone (Orfadin)FDA Link 10/2022 - 05/2017
11	Homogentisic AcidIBA 09/2022 - 05/2017
7	Tyrosine (L-Tyrosine)FDA Link 09/2022 - 05/2017
2	Phenylalanine (L-Phenylalanine)FDA Link 09/2022 - 08/2022
1	oxidized low density lipoproteinIBA 01/2023
1	Proton Pump InhibitorsIBA 09/2021
1	4-Hydroxyphenylpyruvate DioxygenaseIBA 09/2021
1	Proteins (Proteins, Gene)FDA Link 05/2020
1	Serum AlbuminIBA 05/2020
1	Vitamin D FDA LinkGeneric 05/2020
1	ZincIBA 05/2020
1	Biomarkers (Surrogate Marker)IBA 05/2020
1	Ascorbic Acid (Vitamin C)FDA LinkGeneric 05/2020
1	NitrogenIBA 05/2020
1	SeleniumIBA 05/2020
1	Denosumab FDA Link 04/2013
1	Cinacalcet (Sensipar)FDA Link 04/2013

Therapy/Procedure

5	Therapeutics 07/2022 - 07/2019
1	Spinal Fusion (Spondylosyndesis) 10/2022
1	Drug Therapy (Chemotherapy) 09/2021