Elsebet Ostergaard Selected Research

4 Hypomyelinating Leukodystrophy

10/2016

Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient.

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Elsebet Ostergaard Research Topics

Disease

2	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 01/2022 - 03/2007
2	Cardiomyopathies (Cardiomyopathy) 01/2018 - 01/2018
2	Succinate-Coa Ligase Deficiency 03/2016 - 02/2010
2	Fatal Infantile Lactic Acidosis 02/2010 - 08/2007
1	Chronic Renal Insufficiency 03/2022
1	Intellectual Disability (Idiocy) 01/2022
1	Hypophosphatasia 05/2021
1	Pain (Aches) 05/2021
1	Lactic Acidosis 01/2018
1	Ataxia (Dyssynergia) 01/2018
1	Ophthalmoplegia (External Ophthalmoplegia) 01/2018
1	Leigh Disease (Leigh's Disease) 01/2018
1	Hyperekplexia 11/2017
1	4 Hypomyelinating Leukodystrophy 10/2016
1	Methylmalonic acidemia 03/2016
1	Brain Diseases (Brain Disorder) 01/2016
1	Muscle Hypotonia (Hypotonia) 01/2016
1	Seizures (Absence Seizure) 01/2016
1	Cytochrome-c Oxidase Deficiency 03/2015
1	Obesity 03/2015
1	Osteogenesis Imperfecta (Lobstein Disease) 05/2014
1	Failure to Thrive 04/2014
1	Microphthalmos 03/2011
1	Retinal Dystrophies 01/2011
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2011

Drug/Important Bio-Agent (IBA)

4	Mitochondrial DNA (mtDNA)IBA 03/2022 - 08/2007
3	EnzymesIBA 01/2022 - 02/2010
2	Succinate-CoA Ligases (Succinyl Coenzyme A Synthetases)IBA 03/2016 - 02/2010
1	Proteins (Proteins, Gene)FDA Link 01/2022
1	Glutamine (L-Glutamine)FDA Link 01/2022
1	Alkaline PhosphataseIBA 05/2021
1	N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA 05/2021
1	asfotase alfaIBA 05/2021
1	Asu(1,6)- argipressin (VAS-A)IBA 05/2021
1	Analgesics (Analgesic Drugs)IBA 05/2021
1	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 01/2018
1	Mitochondrial Proton-Translocating ATPases (Mitochondrial ATP Synthase)IBA 01/2018
1	AcidsIBA 11/2017
1	Chaperonin 60IBA 10/2016
1	Lactic Acid (Lactate)FDA LinkGeneric 01/2016
1	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 03/2015
1	Collagen Type I (Type I Collagen)IBA 05/2014
1	Bone Morphogenetic Protein 1IBA 05/2014
1	trypsin-like serine proteaseIBA 03/2011
1	c-Mer Tyrosine KinaseIBA 01/2011
1	Coenzyme A Ligases (Acid-Thiol Ligases)IBA 08/2007
1	Succinic Acid (Succinate)IBA 08/2007
1	Methylmalonic AcidIBA 03/2007

Therapy/Procedure

1	Enzyme Replacement Therapy 05/2021
1	Critical Care (Surgical Intensive Care) 04/2014