Katrin Õunap Selected Research

Congenital Disorders of Glycosylation

1/2018	The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients.
6/2017	Three families with mild PMM2-CDG and normal cognitive development.

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Katrin Õunap Research Topics

Disease

13	Intellectual Disability (Idiocy) 01/2023 - 02/2015
7	Neurodevelopmental Disorders 12/2023 - 01/2019
4	Mitochondrial Diseases (Mitochondrial Disease) 11/2022 - 09/2011
3	Seizures (Absence Seizure) 01/2021 - 11/2018
2	Galactosemias (Galactosemia) 01/2024 - 01/2017
2	Epilepsy (Aura) 03/2023 - 01/2016
2	Cysts 01/2021 - 10/2016
2	Muscle Hypotonia (Hypotonia) 01/2021 - 01/2021
2	Leukoencephalopathies 01/2021 - 10/2016
2	Dystonia (Limb Dystonia) 01/2021 - 11/2020
2	Phenylketonurias (Phenylketonuria) 01/2020 - 06/2019
2	Brain Diseases (Brain Disorder) 01/2019 - 02/2015
2	Congenital Disorders of Glycosylation 01/2018 - 06/2017
1	Muscular Diseases (Myopathy) 11/2023
1	Hypoxia (Hypoxemia) 01/2023
1	Failure to Thrive 01/2023
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 10/2022
1	Trisomy (Trisomies) 10/2021
1	Inborn Genetic Diseases (Disease, Hereditary) 10/2021
1	Floating-harbor syndrome 01/2021
1	Obesity 01/2021
1	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2021
1	Rare Diseases (Rare Disease) 01/2021
1	Neoplasms (Cancer) 12/2020
1	Carcinogenesis 12/2020
1	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2020
1	Neurologic Manifestations (Neurological Manifestations) 12/2020
1	Peripheral Nervous System Diseases (PNS Diseases) 01/2020
1	Autism Spectrum Disorder 01/2020
1	Autistic Disorder (Autism) 01/2019
1	Multiple Acyl Coenzyme A Dehydrogenase Deficiency 01/2019
1	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2019
1	Microcephaly 01/2019
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2019
1	Status Epilepticus (Complex Partial Status Epilepticus) 11/2018
1	Vitamin B 12 Deficiency (Vitamin B12 Deficiency) 06/2018
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2018
1	Disease Progression 01/2018
1	Cytochrome-c Oxidase Deficiency 01/2018
1	Hyperekplexia 11/2017
1	Infantile Epileptic-Dyskinetic Encephalopathy 12/2016
1	Mitochondrial Myopathies (Mitochondrial Myopathy) 10/2016
1	Cardiomyopathies (Cardiomyopathy) 10/2016
1	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 10/2016
1	Cerebral Small Vessel Diseases 10/2016
1	Type 2 Episodic Ataxia 01/2016
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2016

Drug/Important Bio-Agent (IBA)

9	Proteins (Proteins, Gene)FDA Link 12/2023 - 06/2017
3	ChromatinIBA 12/2023 - 01/2019
3	Messenger RNA (mRNA)IBA 01/2023 - 02/2015
2	Galactose (Galactopyranose)FDA LinkGeneric 01/2024 - 01/2017
2	LipidsIBA 03/2023 - 06/2017
2	Amino Acids FDA Link 11/2022 - 01/2019
2	Kainic Acid Receptors (Kainate Receptor)IBA 11/2021 - 01/2021
2	Small Nucleolar RNA (snoRNA)IBA 01/2021 - 10/2016
2	Histones (Histone)IBA 12/2020 - 01/2019
2	EnzymesIBA 11/2020 - 05/2015
2	Transcription Factors (Transcription Factor)IBA 01/2020 - 01/2019
2	O-GlcNAc transferaseIBA 01/2020 - 01/2020
2	Phenylalanine (L-Phenylalanine)FDA Link 06/2019 - 01/2018
2	Biomarkers (Surrogate Marker)IBA 06/2018 - 09/2011
2	Mitochondrial DNA (mtDNA)IBA 12/2016 - 10/2016
1	Myosins (Myosin)IBA 11/2023
1	LysophospholipidsIBA 03/2023
1	Phosphatidylcholines (Phosphatidylcholine)IBA 03/2023
1	Mixed Function Oxygenases (Monooxygenases)IBA 01/2023
1	Oxygen (Dioxygen)IBA 01/2023
1	TetrapyrrolesIBA 11/2022
1	CalpainIBA 10/2022
1	DNA (Deoxyribonucleic Acid)IBA 10/2021
1	2- amino- 1- methyl- 6- phenylimidazo(4,5- b)pyridineIBA 01/2021
1	Carrier Proteins (Binding Protein)IBA 01/2021
1	CalciumIBA 01/2021
1	purineIBA 11/2020
1	NucleotidesIBA 01/2020
1	Dihydropteridine Reductase (6,7 Dihydropteridine Reductase)IBA 01/2020
1	DNA-Directed DNA Polymerase (Polymerases, DNA)IBA 01/2019
1	phosphomannomutaseIBA 01/2019
1	DNA Primase (Primase)IBA 01/2019
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2019
1	Anticonvulsants (Antiepileptic Drugs)IBA 11/2018
1	propionylcarnitineIBA 06/2018
1	PalmitoylcarnitineIBA 06/2018
1	Acetylcarnitine (Alcar)IBA 06/2018
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 06/2018
1	CreatineIBA 01/2018
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 01/2018
1	Arginine (L-Arginine)FDA Link 01/2018
1	Adenosine Triphosphate (ATP)IBA 01/2018
1	Congenital disorder of glycosylation type 1AIBA 01/2018
1	AcidsIBA 11/2017
1	Cyclin-Dependent Kinases (cdk Proteins)IBA 12/2016
1	ATP Translocases Mitochondrial ADPIBA 10/2016
1	Adenine FDA LinkGeneric 01/2016
1	GuanineIBA 01/2016
1	Nonsense Codon (Nonsense Mutation)IBA 01/2016
1	CytosineIBA 01/2016

Therapy/Procedure

2	Therapeutics 01/2021 - 01/2018
1	Aftercare (After-Treatment) 06/2018
1	Mechanical Ventilators (Ventilator) 10/2016