Holger Prokisch Selected Research

Lactic Acidosis

1/2018	Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
1/2017	Neonatal encephalocardiomyopathy caused by mutations in VARS2.
1/2017	Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
3/2016	Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.
1/2016	EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.
1/2016	Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.
7/2015	MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.
1/2015	Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.
12/2014	Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.
6/2012	Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.

For more, sign up at right for free...

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

Holger Prokisch Research Topics

Disease

40	Mitochondrial Diseases (Mitochondrial Disease) 01/2024 - 08/2002
13	Brain Diseases (Brain Disorder) 01/2022 - 05/2012
12	Lactic Acidosis 01/2018 - 08/2011
10	Dystonia (Limb Dystonia) 01/2024 - 08/2012
10	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2020 - 10/2011
8	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 10/2019 - 02/2012
8	Neurodegeneration with brain iron accumulation (NBIA) 01/2018 - 10/2011
7	Seizures (Absence Seizure) 01/2022 - 05/2016
6	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 03/2024 - 01/2017
5	Neurodevelopmental Disorders 03/2024 - 11/2020
5	Inborn Genetic Diseases (Disease, Hereditary) 01/2024 - 05/2004
5	Atrophy 12/2023 - 05/2012
5	Muscle Hypotonia (Hypotonia) 01/2018 - 08/2011
5	Type 2 Diabetes Mellitus (MODY) 01/2016 - 11/2010
4	Nervous System Diseases (Neurological Disorders) 01/2024 - 12/2014
4	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2023 - 06/2016
4	Acute Liver Failure (Fulminant Hepatic Failure) 01/2023 - 10/2018
4	Disease Progression 01/2021 - 05/2012
4	Optic Atrophy 01/2021 - 01/2018
4	Cardiomyopathies (Cardiomyopathy) 01/2020 - 01/2016
4	Cardiovascular Diseases (Cardiovascular Disease) 01/2018 - 04/2008
4	Insulin Resistance 01/2016 - 12/2014
3	Leigh Disease (Leigh's Disease) 10/2023 - 12/2014
3	Intellectual Disability (Idiocy) 10/2023 - 02/2015
3	Gout 12/2021 - 04/2008
3	Hyperammonemia 03/2021 - 01/2016
3	Rare Diseases (Rare Disease) 01/2021 - 12/2018
3	Liver Failure 11/2020 - 01/2016
3	Muscular Diseases (Myopathy) 11/2019 - 02/2012
3	Type 1 Diabetes Mellitus (Autoimmune Diabetes) 01/2019 - 10/2013
3	Movement Disorders (Movement Disorder) 01/2018 - 01/2013
3	Inflammation (Inflammations) 10/2017 - 01/2016
3	Parkinsonian Disorders (Parkinsonism) 07/2017 - 06/2013
3	Hypoglycemia (Reactive Hypoglycemia) 02/2016 - 01/2016
3	Cytochrome-c Oxidase Deficiency 12/2015 - 09/2014
3	Neoplasms (Cancer) 03/2015 - 11/2010
3	Leukoencephalopathies 09/2014 - 06/2009
3	Atopic Dermatitis (Atopic Eczema) 07/2014 - 08/2008
3	Parkinson Disease (Parkinson's Disease) 12/2011 - 01/2006
3	Pantothenate Kinase-Associated Neurodegeneration (Hallervorden-Spatz Disease) 01/2008 - 02/2003
2	Epilepsy (Aura) 12/2023 - 01/2017
2	Stroke (Strokes) 10/2023 - 10/2017
2	Mohr-Tranebjaerg syndrome 11/2022 - 05/2009
2	Autoimmune Diseases (Autoimmune Disease) 11/2022 - 01/2019
2	Hearing Loss (Hearing Impairment) 10/2022 - 05/2011
2	Atherosclerosis 01/2022 - 11/2010
2	Microcephaly 01/2022 - 12/2017
2	Asthma (Bronchial Asthma) 01/2022 - 08/2008
2	Metabolic Syndrome (Dysmetabolic Syndrome X) 12/2021 - 10/2015
2	Mitochondrial complex I deficiency 10/2019 - 06/2011
2	Neutropenia 01/2019 - 02/2015
2	Thyroiditis 01/2019 - 02/2014
2	Infections 10/2017 - 01/2017
2	Coenzyme Q10 Deficiency 01/2017 - 08/2007

Drug/Important Bio-Agent (IBA)

26	Proteins (Proteins, Gene)FDA Link 01/2024 - 08/2002
20	Mitochondrial DNA (mtDNA)IBA 03/2024 - 12/2011
13	Lactic Acid (Lactate)FDA LinkGeneric 01/2024 - 05/2012
13	IronIBA 10/2021 - 10/2011
8	Transfer RNA (tRNA)IBA 12/2020 - 06/2012
7	DNA (Deoxyribonucleic Acid)IBA 01/2023 - 06/2011
7	EnzymesIBA 01/2022 - 09/2013
6	RNA (Ribonucleic Acid)IBA 01/2023 - 07/2015
6	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2018 - 05/2009
5	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 10/2021 - 09/2014
4	Adenosine Triphosphate (ATP)IBA 01/2024 - 11/2014
4	Amino Acids FDA Link 12/2023 - 03/2015
4	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 11/2023 - 08/2016
4	Ligases (Synthetase)IBA 06/2023 - 08/2014
4	Biomarkers (Surrogate Marker)IBA 01/2022 - 12/2014
4	Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA 12/2021 - 04/2015
4	Oxidoreductases (Dehydrogenase)IBA 01/2021 - 01/2015
4	coenzyme Q10 (CoQ10)IBA 11/2020 - 08/2007
4	Insulin (Novolin)FDA Link 01/2016 - 12/2014
3	idebenoneIBA 01/2024 - 11/2021
3	Pyruvic Acid (Pyruvate)IBA 01/2022 - 05/2015
3	Uric Acid (Urate)IBA 12/2021 - 04/2008
3	Coenzyme A (CoA)IBA 01/2019 - 02/2003
3	Glucose (Dextrose)FDA LinkGeneric 01/2016 - 05/2015
2	UbiquitinIBA 03/2024 - 06/2023
2	Dopamine (Intropin)FDA LinkGeneric 11/2023 - 01/2017
2	Protein Isoforms (Isoforms)IBA 10/2023 - 02/2003
2	purineIBA 01/2022 - 11/2020
2	Fatty Acids (Saturated Fatty Acids)IBA 01/2022 - 02/2016
2	Nicotinic Receptors (Nicotinic Acetylcholine Receptor)IBA 01/2021 - 12/2010
2	Sulfides (Thioethers)IBA 11/2020 - 01/2017
2	Transaminases (Aminotransferases)IBA 11/2020 - 12/2017
2	UridineIBA 01/2020 - 01/2017
2	NAD (NADH)IBA 01/2020 - 01/2019
2	Hydro-Lyases (Dehydratases)IBA 01/2020 - 01/2019
2	Mitochondrial RNAIBA 10/2019 - 08/2013
2	AntibodiesIBA 01/2019 - 02/2014
2	3-methylglutaconic acidIBA 12/2018 - 02/2015
2	CytokinesIBA 01/2018 - 12/2014
2	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 01/2018 - 01/2016
2	Flavin-Adenine Dinucleotide (FAD)IBA 07/2017 - 06/2016
2	Lysine (L-Lysine)FDA Link 01/2017 - 05/2016

Therapy/Procedure

3	Therapeutics 01/2024 - 10/2019
3	Deep Brain Stimulation 01/2024 - 08/2012
3	Ketogenic Diet 11/2020 - 05/2015
2	Liver Transplantation 01/2024 - 01/2019