M Khedr Selected Research

nitisinone (Orfadin)

6/2022	Temporal adaptations in the phenylalanine/tyrosine pathway and related factors during nitisinone-induced tyrosinaemia in alkaptonuria.
3/2022	Characterization of changes in the tyrosine pathway by 24-h profiling during nitisinone treatment in alkaptonuria.
12/2021	Treatment of osteoporotic fractures in alkaptonuria by teriparatide stimulates bone formation and decreases fracture rate - A report of two cases.
1/2021	Evaluating the aortic stenosis phenotype before and after the effect of homogentisic acid lowering therapy: Analysis of a large cohort of eighty-one alkaptonuria patients.
11/2019	Quantification of the flux of tyrosine pathway metabolites during nitisinone treatment of Alkaptonuria.
10/2018	Data on items of AKUSSI in Alkaptonuria collected over three years from the United Kingdom National Alkaptonuria Centre and the impact of nitisinone.
1/2018	Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone.
1/2018	Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in Alkaptonuria.
1/2018	Assessment 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.
1/2018	Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre.

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M Khedr Research Topics

Disease

11	Alkaptonuria 06/2022 - 01/2018
3	Ochronosis 01/2021 - 01/2018
2	Body Weight (Weight, Body) 06/2022 - 11/2019
2	Disease Progression 01/2018 - 01/2018
1	Weight Gain 06/2022
1	Osteoporosis 12/2021
1	Osteoporotic Fractures 12/2021
1	Aortic Valve Stenosis (Aortic Stenosis) 01/2021
1	Inborn Genetic Diseases (Disease, Hereditary) 10/2018
1	Alkaptonuric ochronosis 01/2018

Drug/Important Bio-Agent (IBA)

11	nitisinone (Orfadin)FDA Link 06/2022 - 01/2018
6	Tyrosine (L-Tyrosine)FDA Link 06/2022 - 01/2018
5	Homogentisic AcidIBA 01/2021 - 01/2018
2	Urea (Carbamide)FDA LinkGeneric 06/2022 - 11/2019
1	CreatinineIBA 06/2022
1	Phenylalanine (L-Phenylalanine)FDA Link 06/2022
1	Proteins (Proteins, Gene)FDA Link 06/2022
1	Teriparatide (Parathar)FDA Link 12/2021
1	Diphosphonates (Bisphosphonates)IBA 12/2021
1	PolymersIBA 10/2018
1	Amino Acids FDA Link 01/2018
1	Acetic Acid (Vinegar)FDA LinkGeneric 01/2018
1	5-hydroxyindoleIBA 01/2018

Therapy/Procedure

5	Therapeutics 12/2021 - 01/2018
1	Protein-Restricted Diet (Diet, Protein Restricted) 06/2022
1	Slit Lamp 01/2018
1	Aftercare (After-Treatment) 01/2018