Saskia B Wortmann Selected Research

dichloromaleic acid (DCMA)

1/2017	Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?
1/2014	Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect.
11/2013	Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.

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Saskia B Wortmann Research Topics

Disease

17	Mitochondrial Diseases (Mitochondrial Disease) 01/2022 - 01/2009
6	Intellectual Disability (Idiocy) 10/2021 - 02/2015
6	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2019 - 01/2012
5	Neutropenia 01/2022 - 02/2015
5	Brain Diseases (Brain Disorder) 01/2022 - 02/2015
5	Seizures (Absence Seizure) 10/2021 - 01/2017
4	Hypoglycemia (Reactive Hypoglycemia) 01/2022 - 01/2020
4	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2018 - 04/2011
4	3-Methylglutaconic Aciduria 01/2017 - 01/2012
3	Glycogen Storage Disease (Glycogenosis) 01/2022 - 01/2020
3	Anemia 01/2022 - 01/2019
3	Glycogen Storage Disease IB 01/2022 - 01/2020
3	Dystonia (Limb Dystonia) 01/2022 - 06/2012
3	Muscle Hypotonia (Hypotonia) 10/2021 - 12/2017
3	Atrophy 10/2021 - 02/2015
3	Cataract (Cataracts) 01/2021 - 02/2015
3	Neurodevelopmental Disorders 11/2020 - 11/2018
3	Liver Failure 11/2020 - 01/2020
3	Type I 3-Methylglutaconic Aciduria 01/2014 - 01/2012
2	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 01/2022 - 01/2020
2	Reinfection 01/2022 - 12/2017
2	Lactic Acidosis 10/2021 - 01/2017
2	Optic Atrophy 01/2021 - 01/2020
2	Ataxia (Dyssynergia) 01/2021 - 01/2017
2	Epilepsy (Aura) 10/2020 - 01/2019
2	Alopecia (Baldness) 05/2020 - 01/2020
2	Rare Diseases (Rare Disease) 04/2020 - 01/2020
2	Movement Disorders (Movement Disorder) 01/2020 - 02/2015
2	Muscle Spasticity (Spastic) 01/2020 - 01/2020
2	Cardiomyopathies (Cardiomyopathy) 01/2020 - 01/2018
2	Hereditary Spastic Paraplegia 01/2018 - 01/2015
2	Hyperammonemia 12/2017 - 01/2017
2	Infections 10/2017 - 06/2012
2	Barth Syndrome 01/2014 - 11/2013
2	Costeff optic atrophy syndrome 01/2014 - 11/2013
1	Abscess 01/2022
1	Virus Diseases (Viral Diseases) 12/2021
1	Cardiac Sudden Death (Sudden Cardiac Arrest) 12/2021
1	Neurologic Manifestations (Neurological Manifestations) 10/2021
1	Congenital Disorders of Glycosylation 01/2021
1	Drug Resistant Epilepsy 01/2021
1	Disease Susceptibility (Diathesis) 01/2021
1	Hemorrhage 01/2021
1	Muscular Diseases (Myopathy) 01/2021
1	Phenylketonurias (Phenylketonuria) 01/2021
1	Rhabdomyolysis 01/2021
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2021
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2021
1	Status Epilepticus (Complex Partial Status Epilepticus) 10/2020
1	Infantile Epileptic-Dyskinetic Encephalopathy 10/2020
1	Cleft Palate (Palate, Cleft) 09/2020
1	Lactose Intolerance (Intolerance, Lactose) 09/2020
1	Diarrhea 09/2020
1	Bjornstad syndrome 05/2020
1	Type 2 Diabetes Mellitus (MODY) 01/2020
1	Leigh Disease (Leigh's Disease) 01/2020
1	Pelger-Huet Anomaly 01/2020

Drug/Important Bio-Agent (IBA)

8	Mitochondrial DNA (mtDNA)IBA 01/2021 - 01/2009
7	Proteins (Proteins, Gene)FDA Link 12/2021 - 11/2013
5	EnzymesIBA 01/2022 - 01/2009
4	Transaminases (Aminotransferases)IBA 01/2021 - 12/2017
4	Phospholipids (Phosphatides)FDA LinkGeneric 12/2018 - 06/2012
4	3-methylglutaconic acidIBA 12/2018 - 01/2012
4	Leucine (L-Leucine)FDA Link 01/2014 - 01/2012
3	empagliflozinIBA 01/2022 - 01/2020
3	Granulocyte Colony-Stimulating Factor (G-CSF)IBA 01/2022 - 01/2020
3	UridineIBA 10/2020 - 01/2017
3	dichloromaleic acid (DCMA)IBA 01/2017 - 11/2013
2	Adenosine Triphosphatases (ATPase)IBA 01/2022 - 11/2018
2	RNA (Ribonucleic Acid)IBA 01/2022 - 01/2018
2	purineIBA 01/2022 - 11/2020
2	pyrimidineIBA 10/2020 - 01/2017
2	Sodium-Glucose Transporter 2 InhibitorsIBA 01/2020 - 01/2020
2	Transfer RNA (tRNA)IBA 01/2018 - 12/2017
2	Lactic Acid (Lactate)FDA LinkGeneric 01/2018 - 09/2015
2	AcidsIBA 01/2018 - 11/2017
2	Fatty Acids (Saturated Fatty Acids)IBA 01/2018 - 01/2015
2	PhosphatidylglycerolsIBA 01/2018 - 06/2012
2	Creatine Kinase (Creatine Phosphokinase)IBA 09/2015 - 10/2012
1	PyrophosphatasesIBA 01/2022
1	Inosine Triphosphate (ITP)IBA 01/2022
1	Pharmaceutical PreparationsIBA 01/2022
1	Inosine TriphosphataseIBA 01/2022
1	Inorganic Pyrophosphatase (Pyrophosphatase, Inorganic)IBA 12/2021
1	Immunoglobulin D (IgD)IBA 10/2021
1	PhosphoenolpyruvateIBA 10/2021
1	Adenosine Monophosphate (AMP)IBA 01/2021
1	MagnesiumIBA 01/2021
1	Oxidoreductases (Dehydrogenase)IBA 01/2021
1	Phenylalanine (L-Phenylalanine)FDA Link 01/2021
1	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2021
1	Thiamine (Aneurin)FDA Link 01/2021
1	Thiamin Pyrophosphokinase (Thiamine Pyrophosphokinase)IBA 01/2021
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 11/2020
1	Uridine Monophosphate (UMP)IBA 10/2020
1	Galactose (Galactopyranose)FDA LinkGeneric 09/2020
1	Hypoglycemic Agents (Hypoglycemics)IBA 01/2020

Therapy/Procedure

4	Ketogenic Diet 09/2021 - 01/2018
2	Therapeutics 01/2021 - 01/2021
2	Cochlear Implants (Cochlear Implant) 12/2017 - 03/2015