M Rebecca Heiner-Fokkema Selected Research

Tyrosinemias (Tyrosinemia)

6/2020	Aspartame and Phe-Containing Degradation Products in Soft Drinks across Europe.
5/2020	Inter-laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples.
1/2020	Dried blood spot versus venous blood sampling for phenylalanine and tyrosine.
12/2019	Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1.
11/2019	The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients.
10/2019	Blood and Brain Biochemistry and Behaviour in NTBC and Dietary Treated Tyrosinemia Type 1 Mice.
8/2019	Biomarkers of Micronutrients in Regular Follow-Up for Tyrosinemia Type 1 and Phenylketonuria Patients.
1/2018	Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day.
1/2017	Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1.
1/2015	Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

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M Rebecca Heiner-Fokkema Research Topics

Disease

13	Phenylketonurias (Phenylketonuria) 11/2021 - 11/2011
10	Tyrosinemias (Tyrosinemia) 06/2020 - 01/2015
3	Vitamin B 12 Deficiency (Vitamin B12 Deficiency) 11/2021 - 06/2019
3	Metabolic Diseases (Metabolic Disease) 12/2019 - 01/2017
2	Fatigue 11/2022 - 01/2021
1	Myalgia 11/2022
1	Medium chain acyl CoA dehydrogenase deficiency 11/2022
1	Splenomegaly 01/2022
1	Necrotizing Enterocolitis 03/2021
1	Ketosis 01/2021
1	Protein-Energy Malnutrition (Marasmus) 01/2021
1	Biotin deficiency 01/2021
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2021
1	Alkaptonuria 01/2021
1	Glycogen Storage Disease (Glycogenosis) 01/2021
1	Hypoalbuminemia 01/2021
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 11/2020
1	Dyslipidemias (Dyslipidemia) 10/2020
1	Neoplasms (Cancer) 10/2020
1	Hypertension (High Blood Pressure) 10/2020
1	Proteinuria 01/2020
1	Overweight 05/2019
1	Solitary Kidney 03/2019
1	Kidney Diseases (Kidney Disease) 03/2019
1	Movement Disorders (Movement Disorder) 01/2019
1	Epilepsy (Aura) 01/2019
1	Mitochondrial encephalopathy 01/2019
1	Type 2 Diabetes Mellitus (MODY) 01/2018
1	Hypoglycemia (Reactive Hypoglycemia) 01/2016
1	Disease Progression 10/2014
1	Diabetes Mellitus 03/2012
1	Renal Insufficiency (Renal Failure) 03/2012
1	Cardio-Renal Syndrome 03/2012
1	Fibrosis (Cirrhosis) 03/2012

Drug/Important Bio-Agent (IBA)

11	Phenylalanine (L-Phenylalanine)FDA Link 11/2021 - 11/2011
6	Tyrosine (L-Tyrosine)FDA Link 01/2020 - 01/2015
4	Biomarkers (Surrogate Marker)IBA 03/2021 - 06/2019
4	Amino Acids FDA Link 09/2019 - 01/2015
3	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 11/2021 - 06/2019
3	Neutral Amino AcidsIBA 01/2018 - 11/2016
2	Carnitine (L-Carnitine)FDA LinkGeneric 11/2022 - 01/2021
2	Proteins (Proteins, Gene)FDA Link 01/2021 - 03/2012
2	EnzymesIBA 01/2021 - 01/2021
2	nitisinone (Orfadin)FDA Link 01/2021 - 05/2020
2	Methylmalonic AcidIBA 12/2020 - 06/2019
2	VitaminsIBA 10/2020 - 01/2019
2	succinylacetoneIBA 05/2020 - 01/2018
2	Neurotransmitter Agents (Neurotransmitter)IBA 09/2019 - 01/2015
2	sapropterin (tetrahydrobiopterin)FDA Link 08/2019 - 07/2013
1	Granulocyte Colony-Stimulating Factor (G-CSF)IBA 01/2022
1	CholesterolIBA 01/2022
1	GlycosphingolipidsIBA 01/2022
1	CitrullineIBA 03/2021
1	EstersIBA 01/2021
1	Leucine (L-Leucine)FDA Link 01/2021
1	CreatineIBA 01/2021
1	KetonesIBA 01/2021
1	C-Reactive ProteinIBA 01/2020
1	MicronutrientsIBA 08/2019
1	HomocysteineIBA 06/2019
1	Magnesium Oxide (Magnesia)FDA Link 05/2019
1	magnesium citrateIBA 05/2019
1	Magnesium Sulfate (Sulfate, Magnesium)FDA LinkGeneric 05/2019
1	Leucovorin (Folinic Acid)FDA Link 01/2019
1	Bile Acids and Salts (Bile Acids)IBA 01/2018
1	Glucose (Dextrose)FDA LinkGeneric 01/2016
1	Brain Natriuretic Peptide (Natrecor)FDA Link 10/2014
1	Ketone BodiesIBA 10/2014
1	CalciumIBA 03/2012
1	CollagenIBA 03/2012
1	Receptor for Advanced Glycation End ProductsIBA 03/2012
1	Advanced Glycation End ProductsIBA 03/2012

Therapy/Procedure

2	Diet Therapy (Therapy, Diet) 09/2019 - 08/2019
1	Renal Dialysis (Hemodialysis) 01/2021
1	Therapeutics 06/2019
1	Transplantation 03/2019
1	High-Protein Diet 11/2016