Saadet Mercimek-Mahmutoglu Selected Research

Pyridoxine-dependent epilepsy

1/2016	A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1.
5/2015	Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
4/2015	Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome.
2/2015	Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.
11/2014	Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet.
4/2014	Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patient.
1/2014	Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect.
9/2013	Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations.
11/2012	Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
9/2011	Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.

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Saadet Mercimek-Mahmutoglu Research Topics

Disease

11	Seizures (Absence Seizure) 01/2017 - 01/2004
11	Pyridoxine-dependent epilepsy 01/2016 - 05/2009
6	Guanidinoacetate methyltransferase deficiency 12/2015 - 01/2004
5	Brain Diseases (Brain Disorder) 10/2016 - 05/2009
4	Intellectual Disability (Idiocy) 01/2017 - 01/2004
4	Epilepsy (Aura) 01/2016 - 01/2004
2	Cognitive Dysfunction 09/2017 - 09/2015
2	Muscle Hypotonia (Hypotonia) 09/2017 - 01/2015
2	Movement Disorders (Movement Disorder) 04/2016 - 02/2015
2	Drug Resistant Epilepsy 01/2016 - 12/2010
2	Nonketotic Hyperglycinemia 05/2015 - 06/2011
2	Methylenetetrahydrofolate reductase deficiency 05/2015 - 01/2015
1	Coarse facial features 09/2017
1	Free sialic acid storage disease 09/2017
1	Cardiomegaly (Heart Hypertrophy) 09/2017
1	Sialic Acid Storage Disease (Salla Disease) 09/2017
1	Congenital Disorders of Glycosylation 01/2017
1	Congenital disorder of glycosylation type II 01/2017
1	Parkinsonian Disorders (Parkinsonism) 04/2016
1	Spastic Paraparesis 04/2016
1	Ataxia (Dyssynergia) 04/2016
1	Chorea (Rheumatic Chorea) 04/2016
1	Dystonia (Limb Dystonia) 04/2016
1	Neurodevelopmental Disorders 01/2016
1	3-Methylglutaconic Aciduria 01/2016
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2016
1	Hyperkinesis 01/2016
1	Nervous System Diseases (Neurological Disorders) 01/2016
1	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2015
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 08/2015
1	Infantile Epileptic-Dyskinetic Encephalopathy 08/2015
1	Hypoglycemia (Reactive Hypoglycemia) 07/2015
1	Hyperammonemia 07/2015
1	Menkes Kinky Hair Syndrome (Menkes Disease) 05/2015
1	Pyruvate Dehydrogenase Complex Deficiency Disease 05/2015
1	Inborn Genetic Diseases (Disease, Hereditary) 02/2015
1	Scoliosis 01/2015
1	Glycogen Storage Disease (Glycogenosis) 11/2014
1	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 08/2014
1	Zellweger Syndrome (Zellweger's Syndrome) 08/2014
1	Cysts 04/2014
1	Clinical Deterioration 11/2012
1	Argininosuccinic Aciduria 01/2012
1	Infantile Hypophosphatasia 09/2011
1	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 09/2011

Drug/Important Bio-Agent (IBA)

9	Oxidoreductases (Dehydrogenase)IBA 01/2016 - 05/2009
7	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2017 - 05/2009
5	Lysine (L-Lysine)FDA Link 01/2016 - 11/2012
4	Arginine (L-Arginine)FDA Link 01/2016 - 12/2010
4	AcidsIBA 01/2016 - 01/2014
4	EnzymesIBA 11/2014 - 01/2012
4	CreatineIBA 07/2014 - 01/2004
3	Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)IBA 12/2015 - 01/2004
3	Leucovorin (Folinic Acid)FDA Link 09/2011 - 01/2007
2	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 09/2015 - 05/2015
2	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 05/2015 - 01/2015
2	Phosphates (Orthophosphate)IBA 02/2015 - 09/2011
2	Folic Acid (Vitamin M)FDA LinkGeneric 01/2015 - 01/2007
2	Anticonvulsants (Antiepileptic Drugs)IBA 04/2014 - 05/2012
2	pipecolic acidIBA 09/2013 - 11/2012
2	Glycine (Aminoacetic Acid)FDA LinkGeneric 06/2011 - 12/2010
2	creatine transporterIBA 12/2010 - 01/2004
1	N-Acetylneuraminic Acid (Sialic Acid)IBA 09/2017
1	Protein Isoforms (Isoforms)IBA 01/2017
1	Polysaccharides (Glycans)IBA 01/2017
1	Congenital disorder of glycosylation type 1AIBA 01/2017
1	Transferrin (beta 2 Transferrin)IBA 01/2017
1	VitaminsIBA 10/2016
1	Amino Acids FDA Link 10/2016
1	IronIBA 04/2016
1	NucleotidesIBA 01/2016
1	AMPA Receptors (AMPA Receptor)IBA 01/2016
1	Glutamic Acid (Glutamate)FDA Link 01/2016
1	Proteins (Proteins, Gene)FDA Link 01/2016
1	Starch (Cornstarch)IBA 09/2015
1	Blood Glucose (Blood Sugar)IBA 09/2015
1	Glucose (Dextrose)FDA LinkGeneric 09/2015
1	AmylopectinIBA 09/2015
1	Glutamate DehydrogenaseIBA 07/2015
1	Diazoxide (Hyperstat)FDA Link 07/2015
1	Insulin (Novolin)FDA Link 07/2015
1	Tyrosine 3-Monooxygenase (Tyrosine Hydroxylase)IBA 02/2015
1	tetrahydropterinIBA 02/2015
1	Dihydropteridine Reductase (6,7 Dihydropteridine Reductase)IBA 02/2015
1	Guanosine Triphosphate (GTP)IBA 02/2015
1	PyridoxamineIBA 02/2015
1	Neurotransmitter Agents (Neurotransmitter)IBA 02/2015
1	HomocysteineIBA 01/2015
1	Betaine (C.B.B.)FDA Link 01/2015
1	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 01/2015
1	Phosphorylases (Glucan Phosphorylase)IBA 11/2014
1	Fatty Acids (Saturated Fatty Acids)IBA 08/2014
1	Sodium Benzoate FDA Link 07/2014
1	glycocyamineIBA 07/2014
1	Phenobarbital (Luminal)FDA Link 04/2014
1	Serotonin (5 Hydroxytryptamine)IBA 01/2014
1	Argininosuccinate LyaseIBA 01/2012
1	Urea (Carbamide)FDA LinkGeneric 01/2012

Therapy/Procedure

5	Therapeutics 01/2016 - 11/2012
1	Ketogenic Diet 01/2016