Carola Hedberg-Oldfors Selected Research

Arthrogryposis

10/2016

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle.

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Carola Hedberg-Oldfors Research Topics

Disease

12	Muscular Diseases (Myopathy) 11/2022 - 12/2014
4	Cytochrome-c Oxidase Deficiency 11/2023 - 01/2019
3	Muscle Weakness 11/2023 - 01/2017
3	Cardiomyopathies (Cardiomyopathy) 01/2020 - 01/2017
3	Glycogen Storage Disease (Glycogenosis) 12/2019 - 12/2014
2	Leukoencephalopathies 05/2022 - 08/2020
2	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2022 - 01/2021
2	Vacuolar myopathy 10/2019 - 08/2017
2	Ophthalmoplegia (External Ophthalmoplegia) 01/2019 - 07/2016
1	Infections 01/2023
1	Anemia 01/2023
1	Cataract (Cataracts) 01/2023
1	Dermatomyositis (Dermatopolymyositis) 12/2022
1	Brain Diseases (Brain Disorder) 05/2022
1	Inborn Genetic Diseases (Disease, Hereditary) 05/2022
1	Fever (Fevers) 01/2022
1	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2021
1	Inclusion Body Myositis 01/2021
1	Neoplasms (Cancer) 12/2020
1	Mitochondrial Diseases (Mitochondrial Disease) 12/2020
1	Inflammation (Inflammations) 01/2020
1	Reinfection 01/2020
1	Contracture 01/2019
1	Scoliosis 01/2019
1	Vision Disorders (Hemeralopia) 01/2019
1	Multiple Acyl Coenzyme A Dehydrogenase Deficiency 01/2019
1	Congenital Structural Myopathies (Centronuclear Myopathy) 09/2017
1	Absent corpus callosum cataract immunodeficiency 08/2017
1	Glycogen Storage Disease Type IV (Andersen's Disease) 10/2016
1	Arthrogryposis 10/2016
1	Exocrine Pancreatic Insufficiency 05/2016
1	Liver Diseases (Liver Disease) 05/2016

Drug/Important Bio-Agent (IBA)

6	polyglucosanIBA 01/2020 - 12/2014
5	Mitochondrial DNA (mtDNA)IBA 11/2023 - 12/2020
5	glycogeninIBA 01/2020 - 12/2014
5	GlycogenIBA 01/2020 - 12/2014
4	EnzymesIBA 12/2022 - 10/2019
4	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 12/2022 - 08/2020
2	Proteins (Proteins, Gene)FDA Link 11/2022 - 01/2020
2	Myosins (Myosin)IBA 12/2020 - 07/2016
1	Ribonucleases (Ribonuclease)IBA 01/2023
1	Succinate Dehydrogenase (Fumarate Reductase)IBA 12/2022
1	Amino Acids FDA Link 11/2022
1	Nonmuscle Myosin Type IIAIBA 11/2022
1	Macrophage Colony-Stimulating FactorIBA 05/2022
1	Biomarkers (Surrogate Marker)IBA 05/2022
1	Protein-Tyrosine Kinases (Tyrosine Kinase)IBA 05/2022
1	Asn Transfer RNAIBA 01/2021
1	Nonsense Codon (Nonsense Mutation)IBA 08/2020
1	Creatine Kinase (Creatine Phosphokinase)IBA 01/2020
1	acylcarnitineIBA 01/2019
1	ConnectinIBA 12/2018
1	myotubularinIBA 09/2017
1	Initiator Codon (Start Codon)IBA 10/2016
1	Protein Isoforms (Isoforms)IBA 07/2016
1	DiamondIBA 05/2016
1	Transaminases (Aminotransferases)IBA 05/2016
1	Polysaccharides (Glycans)IBA 12/2015
1	Adenosine Triphosphatases (ATPase)IBA 10/2015
1	Glycogen Synthase (Synthase I)IBA 12/2014

Therapy/Procedure

1	Gastrostomy 01/2019
1	Mechanical Ventilators (Ventilator) 01/2019