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H Orhan Akman Selected Research

Adult Form Polyglucosan Body Disease

11/2020GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.
1/2018Guaiacol as a drug candidate for treating adult polyglucosan body disease.
1/2018A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome.
4/2015Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.

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H Orhan Akman Research Topics

Disease

4Adult Form Polyglucosan Body Disease
11/2020 - 04/2015
4Glycogen Storage Disease Type IV (Andersen's Disease)
11/2020 - 10/2006
3Muscular Diseases (Myopathy)
11/2018 - 12/2014
1Gliosis
11/2020
1Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
01/2019
1Peripheral Nervous System Diseases (PNS Diseases)
01/2019
1Phosphoglycerate Kinase 1 Deficiency
11/2018
1Late Onset Disorders
01/2018
1Glycogen Storage Disease (Glycogenosis)
12/2014
1Muscle Weakness
08/2014
1Atrophy
08/2014
1Fibrosis (Cirrhosis)
08/2014
1Epilepsy (Aura)
02/2013
1Lactic Acidosis
02/2013
1Migraine Disorders (Migraine)
02/2013
1Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
02/2013
1Mitochondrial Myopathies (Mitochondrial Myopathy)
02/2013
1MELAS Syndrome (Syndrome, MELAS)
02/2013
1Parkinsonian Disorders (Parkinsonism)
02/2013
1Inborn Errors Metabolism (Inborn Errors of Metabolism)
01/2011
1Rare Diseases (Rare Disease)
01/2011

Drug/Important Bio-Agent (IBA)

71,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)IBA
11/2020 - 10/2006
5GlycogenIBA
11/2020 - 07/2007
5polyglucosanIBA
11/2020 - 07/2007
2EnzymesIBA
11/2018 - 01/2016
2glycogeninIBA
01/2016 - 12/2014
1Mitochondrial Proteins (Mitochondrial Protein)IBA
01/2019
1Lactic Acid (Lactate)FDA LinkGeneric
11/2018
1GuaiacolIBA
01/2018
1Pharmaceutical PreparationsIBA
01/2018
1triheptanoinIBA
01/2018
1Glycogen Synthase (Synthase I)IBA
12/2014
1Electron Transport Complex IV (Cytochrome c Oxidase)IBA
08/2014
1Cytochromes b (Cytochrome b)IBA
02/2013
1Arginine (L-Arginine)FDA Link
02/2013
1Cysteine (L-Cysteine)FDA Link
02/2013
1Mitochondrial DNA (mtDNA)IBA
02/2013
1Amino AcidsFDA Link
02/2013
1AmylopectinIBA
07/2007
1Polysaccharides (Glycans)IBA
07/2007