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Sabine Grønborg Selected Research

Enzymes

1/2020Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

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Sabine Grønborg Research Topics

Disease

4Epilepsy (Aura)
01/2022 - 01/2014
3Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)
11/2021 - 11/2020
3Disease Progression
11/2021 - 11/2020
2Inborn Genetic Diseases (Disease, Hereditary)
09/2021 - 11/2019
2Neurodegenerative Diseases (Neurodegenerative Disease)
11/2020 - 10/2018
2Intellectual Disability (Idiocy)
04/2014 - 01/2014
1Pyridoxine-dependent epilepsy
01/2022
1Developmental Disabilities (Developmental Disability)
01/2022
1Partial Epilepsies (Epilepsy, Partial)
01/2022
1Neuroblastoma
01/2022
1Heart Diseases (Heart Disease)
09/2021
1Metachromatic Leukodystrophy (Sulfatide Lipidosis)
07/2021
1Nail-Patella Syndrome (Syndrome, Nail-Patella)
12/2020
1Neurodevelopmental Disorders
01/2020
1Aortic Diseases
01/2020
1Hyperlactatemia
11/2019
1Seizures (Absence Seizure)
11/2019
1Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
11/2019
1Nonketotic Hyperglycinemia
11/2019
1Malformations of Cortical Development
10/2018
1Brain Diseases (Brain Disorder)
10/2018
1Agenesis of Corpus Callosum
01/2017
1Nervous System Diseases (Neurological Disorders)
11/2015
1Congenital Disorders of Glycosylation
04/2014
1Congenital disorder of glycosylation type II
04/2014
1Zellweger Syndrome (Zellweger's Syndrome)
08/2011
1Peroxisome biogenesis disorders
07/2009

Drug/Important Bio-Agent (IBA)

3Biomarkers (Surrogate Marker)IBA
06/2021 - 11/2019
3Proteins (Proteins, Gene)FDA Link
10/2018 - 04/2014
2Pyridoxine (Pyridoxin)FDA LinkGeneric
01/2022 - 11/2019
2LipidsIBA
11/2020 - 04/2014
2TubulinIBA
10/2018 - 11/2015
1Sodium Channel BlockersIBA
01/2022
1Oxidoreductases (Dehydrogenase)IBA
01/2022
1Tetrodotoxin (Tetradotoxin)IBA
01/2022
1arimoclomolIBA
11/2021
1Alanine-tRNA LigaseIBA
09/2021
1Transcription Factors (Transcription Factor)IBA
12/2020
1EnzymesIBA
01/2020
1Actins (F Actin)IBA
01/2020
1VitaminsIBA
11/2019
1Pyridoxal Phosphate (Pyridoxal 5 Phosphate)IBA
11/2019
1Glycine (Aminoacetic Acid)FDA LinkGeneric
11/2019
1Anticonvulsants (Antiepileptic Drugs)IBA
11/2019
1Transferrin (beta 2 Transferrin)IBA
04/2014
1Pharmaceutical PreparationsIBA
01/2014
1DNA (Deoxyribonucleic Acid)IBA
08/2011
1Fatty Acids (Saturated Fatty Acids)IBA
07/2009
1PlasmalogensIBA
07/2009

Therapy/Procedure

1Therapeutics
01/2022
1Hematopoietic Stem Cell Transplantation
07/2021