Saskia B Wortmann Selected Research

Glycogen Storage Disease IB

1/2024	Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop.
1/2024	Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value-based healthcare approach and systematic benefit-risk assessment.
1/2022	Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
1/2020	Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.
1/2020	Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib.

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Saskia B Wortmann Research Topics

Disease

19	Mitochondrial Diseases (Mitochondrial Disease) 11/2023 - 01/2009
9	Neutropenia 04/2024 - 02/2015
8	Glycogen Storage Disease (Glycogenosis) 04/2024 - 01/2020
7	Intellectual Disability (Idiocy) 03/2024 - 02/2015
6	Brain Diseases (Brain Disorder) 11/2023 - 02/2015
6	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2019 - 01/2012
5	Glycogen Storage Disease IB 01/2024 - 01/2020
5	Seizures (Absence Seizure) 10/2021 - 01/2017
4	Infections 04/2024 - 06/2012
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	Ataxia (Dyssynergia) 01/2023 - 01/2017
3	Reinfection 01/2023 - 12/2017
3	Anemia 01/2022 - 01/2019
3	Dystonia (Limb Dystonia) 01/2022 - 06/2012
3	Atrophy 10/2021 - 02/2015
3	Muscle Hypotonia (Hypotonia) 10/2021 - 12/2017
3	Cataract (Cataracts) 01/2021 - 02/2015
3	Liver Failure 11/2020 - 01/2020
3	Neurodevelopmental Disorders 11/2020 - 11/2018
3	Type I 3-Methylglutaconic Aciduria 01/2014 - 01/2012
2	Inborn Genetic Diseases (Disease, Hereditary) 03/2024 - 01/2021
2	Hearing Loss (Hearing Impairment) 03/2024 - 03/2015
2	Disease Progression 10/2023 - 10/2012
2	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 01/2022 - 01/2020
2	Lactic Acidosis 10/2021 - 01/2017
2	Optic Atrophy 01/2021 - 01/2020
2	Epilepsy (Aura) 10/2020 - 01/2019
2	Alopecia (Baldness) 05/2020 - 01/2020
2	Rare Diseases (Rare Disease) 04/2020 - 01/2020
2	Cardiomyopathies (Cardiomyopathy) 01/2020 - 01/2018
2	Muscle Spasticity (Spastic) 01/2020 - 01/2020
2	Movement Disorders (Movement Disorder) 01/2020 - 02/2015
2	Hereditary Spastic Paraplegia 01/2018 - 01/2015
2	Hyperammonemia 12/2017 - 01/2017
2	Barth Syndrome 01/2014 - 11/2013
2	Costeff optic atrophy syndrome 01/2014 - 11/2013
1	Fused Kidney 04/2024
1	Pyelonephritis 04/2024
1	Glut1 Deficiency Syndrome 04/2024
1	Amelogenesis Imperfecta 03/2024
1	Tyrosinemias (Tyrosinemia) 02/2024
1	Dehydration (Water Stress) 01/2024
1	Ataxia Telangiectasia (Louis Bar Syndrome) 01/2023
1	Autism Spectrum Disorder 01/2023
1	Leukocytosis (Pleocytosis) 11/2022
1	Autoimmune Diseases (Autoimmune Disease) 11/2022
1	Adult-onset citrullinemia type 2 08/2022
1	Abscess 01/2022
1	Cardiac Sudden Death (Sudden Cardiac Arrest) 12/2021
1	Virus Diseases (Viral Diseases) 12/2021
1	Neurologic Manifestations (Neurological Manifestations) 10/2021

Drug/Important Bio-Agent (IBA)

8	Proteins (Proteins, Gene)FDA Link 08/2022 - 11/2013
8	Mitochondrial DNA (mtDNA)IBA 01/2021 - 01/2009
7	empagliflozinIBA 04/2024 - 01/2020
5	EnzymesIBA 01/2022 - 01/2009
4	Lactic Acid (Lactate)FDA LinkGeneric 04/2024 - 09/2015
4	UridineIBA 11/2023 - 01/2017
4	Transaminases (Aminotransferases)IBA 01/2021 - 12/2017
4	3-methylglutaconic acidIBA 12/2018 - 01/2012
4	Phospholipids (Phosphatides)FDA LinkGeneric 12/2018 - 06/2012
4	Leucine (L-Leucine)FDA Link 01/2014 - 01/2012
3	Sodium-Glucose Transporter 2 InhibitorsIBA 05/2023 - 01/2020
3	Granulocyte Colony-Stimulating Factor (G-CSF)IBA 01/2022 - 01/2020
3	dichloromaleic acid (DCMA)IBA 01/2017 - 11/2013
2	GlycogenIBA 01/2024 - 01/2020
2	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 11/2023 - 11/2020
2	Amino Acids FDA Link 10/2023 - 01/2017
2	Glucose (Dextrose)FDA LinkGeneric 05/2023 - 01/2020
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	AcidsIBA 01/2018 - 11/2017
2	Fatty Acids (Saturated Fatty Acids)IBA 01/2018 - 01/2015
2	Transfer RNA (tRNA)IBA 01/2018 - 12/2017
2	PhosphatidylglycerolsIBA 01/2018 - 06/2012
2	Creatine Kinase (Creatine Phosphokinase)IBA 09/2015 - 10/2012
1	Biomarkers (Surrogate Marker)IBA 04/2024
1	plexinIBA 03/2024
1	succinylacetoneIBA 02/2024
1	Glucose-6-PhosphateIBA 05/2023
1	polyolIBA 05/2023
1	Immunoglobulins (Immunoglobulin)IBA 01/2023
1	Anti-Bacterial Agents (Antibiotics)IBA 01/2023
1	nicotinamide-beta-ribosideIBA 01/2023
1	Protein Isoforms (Isoforms)IBA 01/2023
1	SteroidsIBA 11/2022
1	CarbohydratesIBA 08/2022
1	Inosine Triphosphate (ITP)IBA 01/2022
1	Inosine TriphosphataseIBA 01/2022
1	PyrophosphatasesIBA 01/2022
1	Inorganic Pyrophosphatase (Pyrophosphatase, Inorganic)IBA 12/2021
1	PhosphoenolpyruvateIBA 10/2021
1	Immunoglobulin D (IgD)IBA 10/2021
1	Thiamine (Aneurin)FDA Link 01/2021

Therapy/Procedure

4	Ketogenic Diet 09/2021 - 01/2018
3	Therapeutics 11/2022 - 01/2021
2	Cochlear Implants (Cochlear Implant) 12/2017 - 03/2015