Gwendolyn Gramer Selected Research

propionylcarnitine

4/2017	Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany.
1/2017	Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.

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Gwendolyn Gramer Research Topics

Disease

7	Phenylketonurias (Phenylketonuria) 01/2021 - 01/2013
5	Vitamin B 12 Deficiency (Vitamin B12 Deficiency) 06/2021 - 04/2017
4	Open-Angle Glaucoma (Glaucoma, Open Angle) 04/2018 - 02/2010
4	Glaucoma 04/2018 - 01/2014
3	Homocystinuria 01/2019 - 01/2017
3	Angle-Closure Glaucoma (Glaucoma, Angle Closure) 04/2018 - 01/2014
3	Ocular Hypertension (Glaucoma, Suspect) 10/2017 - 01/2014
3	Low Tension Glaucoma 12/2015 - 02/2010
2	Multiple Acyl Coenzyme A Dehydrogenase Deficiency 06/2021 - 10/2018
2	Atrophy 01/2021 - 01/2019
2	Methylenetetrahydrofolate reductase deficiency 01/2019 - 10/2018
1	Meconium Ileus 01/2022
1	Cystic Fibrosis (Mucoviscidosis) 01/2022
1	Metabolic Diseases (Metabolic Disease) 06/2021
1	Vitamin B Deficiency 06/2021
1	Folic Acid Deficiency (Folic Acid Deficiencies) 06/2021
1	Spastic Paraparesis 12/2020
1	Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset) 12/2020
1	Cardiomyopathies (Cardiomyopathy) 10/2020
1	Muscular Diseases (Myopathy) 10/2020
1	Cardiac Sudden Death (Sudden Cardiac Arrest) 10/2020
1	Atherosclerosis 01/2020
1	Citrullinemia 10/2018
1	Intellectual Disability (Idiocy) 01/2018
1	Propionic Acidemia 01/2017
1	Thalassemia 02/2016
1	Sickle Cell Trait 02/2016
1	Maple Syrup Urine Disease 01/2016
1	Migraine Disorders (Migraine) 12/2015
1	Glut1 Deficiency Syndrome 06/2012
1	Movement Disorders (Movement Disorder) 06/2012
1	Epilepsy (Aura) 06/2012
1	Medium chain acyl CoA dehydrogenase deficiency 06/2011
1	Inborn Urea Cycle Disorders 06/2011
1	Exfoliation Syndrome 02/2010

Drug/Important Bio-Agent (IBA)

8	Phenylalanine (L-Phenylalanine)FDA Link 01/2021 - 01/2013
3	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2021 - 01/2017
3	HomocysteineIBA 10/2020 - 04/2017
3	Methylmalonic AcidIBA 10/2020 - 01/2017
3	hydroxide ionIBA 10/2017 - 01/2014
2	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 06/2021 - 10/2020
2	sapropterin (tetrahydrobiopterin)FDA Link 01/2021 - 01/2017
2	Amino Acids FDA Link 01/2019 - 06/2011
2	Tyrosine (L-Tyrosine)FDA Link 01/2019 - 01/2013
2	Dopamine (Intropin)FDA LinkGeneric 01/2019 - 01/2013
2	CystathionineIBA 04/2017 - 01/2017
2	propionylcarnitineIBA 04/2017 - 01/2017
2	Unsaturated Fatty Acids (Polyunsaturated Fatty Acids)IBA 01/2016 - 01/2013
1	Electron-Transferring Flavoproteins (Electron Transfer Flavoprotein)IBA 06/2021
1	UbiquinoneIBA 06/2021
1	Riboflavin (Vitamin B2)FDA LinkGeneric 06/2021
1	Oxidoreductases (Dehydrogenase)IBA 06/2021
1	Amyloid (Amyloid Fibrils)IBA 01/2021
1	Therapeutic UsesIBA 12/2020
1	Biotin (Vitamin H)FDA Link 12/2020
1	Carnitine (L-Carnitine)FDA LinkGeneric 10/2020
1	Systemic carnitine deficiencyIBA 10/2020
1	oxidized low density lipoproteinIBA 01/2020
1	CholesterolIBA 01/2020
1	Lipoproteins (Lipoprotein)IBA 01/2020
1	LDL CholesterolIBA 01/2020
1	Tryptophan (L-Tryptophan)FDA Link 01/2019
1	Biogenic Amines (Biogenic Amine)IBA 01/2019
1	Hydroxyindoleacetic AcidIBA 01/2019
1	Mixed Function Oxygenases (Monooxygenases)IBA 01/2019
1	5-Hydroxytryptophan (5 Hydroxytryptophan)IBA 01/2019
1	Methionine AdenosyltransferaseIBA 01/2019
1	Serotonin (5 Hydroxytryptamine)IBA 01/2019
1	Coenzyme A (CoA)IBA 10/2018
1	VitaminsIBA 10/2018
1	Coenzymes (Enzyme Cofactors)IBA 10/2018
1	LyasesIBA 10/2018
1	Methionine (L-Methionine)FDA Link 04/2017
1	hydracrylic acidIBA 01/2017
1	Vitamin B 6IBA 01/2017
1	2-methylcitric acidIBA 01/2017
1	hemoglobin TianshuiIBA 02/2016
1	Hydroxyproline (4 Hydroxyproline)IBA 01/2016
1	Leucine (L-Leucine)FDA Link 01/2016
1	phosphatidylethanolamineIBA 01/2016
1	Isoleucine (L-Isoleucine)FDA Link 01/2016
1	Phospholipids (Phosphatides)FDA LinkGeneric 01/2016
1	Phosphatidylcholines (Phosphatidylcholine)IBA 01/2016
1	Cholesterol Esters (Cholesteryl Esters)IBA 01/2016
1	Docosahexaenoic AcidsIBA 01/2013
1	Retinaldehyde (Retinal)IBA 01/2013
1	Glucose (Dextrose)FDA LinkGeneric 06/2012
1	Fatty Acids (Saturated Fatty Acids)IBA 06/2011
1	AcidsIBA 06/2011
1	Protein-Lysine 6-Oxidase (Lysyl Oxidase)IBA 02/2010

Therapy/Procedure

2	Therapeutics 01/2021 - 10/2017
1	PPA protocol 01/2022
1	Prenatal Care (Care, Prenatal) 01/2021
1	Telescopes 04/2018
1	Ketogenic Diet 06/2012