Esra Er Selected Research

6-pyruvoyltetrahydropterin synthase (PTPS)

5/2021

Tetrahydrobiopterin deficiencies: Lesson from clinical experience.

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Esra Er Research Topics

Disease

1	Rhabdomyolysis 11/2023
1	Neurologic Manifestations (Neurological Manifestations) 09/2023
1	2-Hydroxyglutaricaciduria 09/2023
1	Macrocytic Anemia 10/2022
1	Muscle Hypotonia (Hypotonia) 10/2022
1	Abdominal Pain (Pain, Abdominal) 09/2022
1	Cachexia 09/2022
1	6-pyruvoyl-tetrahydropterin synthase deficiency 05/2021
1	B BH4-Deficient Hyperphenylalaninemia 05/2021
1	Phenylketonurias (Phenylketonuria) 05/2021
1	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 03/2021
1	Metabolic Diseases (Metabolic Disease) 03/2021
1	Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset) 08/2018

Drug/Important Bio-Agent (IBA)

1	acylcarnitineIBA 11/2023
1	Carnitine palmitoyl transferase 2 deficiencyIBA 11/2023
1	Lysine (L-Lysine)FDA Link 09/2023
1	Riboflavin (Vitamin B2)FDA LinkGeneric 09/2023
1	AcidsIBA 09/2023
1	Carnitine (L-Carnitine)FDA LinkGeneric 09/2023
1	5,10-methenyltetrahydrofolate synthetaseIBA 10/2022
1	5,10-methenyltetrahydrofolateIBA 10/2022
1	HomocysteineIBA 10/2022
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 10/2022
1	Folic Acid (Vitamin M)FDA LinkGeneric 10/2022
1	Indicators and Reagents (Reagents)IBA 09/2022
1	sapropterin (tetrahydrobiopterin)FDA Link 05/2021
1	sepiapterin reductaseIBA 05/2021
1	6-pyruvoyltetrahydropterin synthase (PTPS)IBA 05/2021
1	GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA 05/2021
1	LipofuscinIBA 03/2021
1	CeroidIBA 03/2021
1	Biotin (Vitamin H)FDA Link 08/2018

Therapy/Procedure

1	Therapeutics 09/2023