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Andrea Gangfuß Selected Research

Diaphanospondylodysostosis

12/2021Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.

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Andrea Gangfuß Research Topics

Disease

3Muscle Weakness
07/2023 - 01/2022
1Brain Abscess (Abscess, Brain)
03/2024
1Communicable Diseases (Infectious Diseases)
03/2024
1Hypoglycemia (Reactive Hypoglycemia)
01/2024
1Cholestasis
01/2024
1Hyperammonemia
01/2024
1Acidosis
01/2024
1Acute Liver Failure (Fulminant Hepatic Failure)
01/2024
1Liver Failure
01/2024
1Neuromuscular Diseases (Neuromuscular Disease)
02/2022
1Muscular Diseases (Myopathy)
01/2022
1Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
01/2022
1Cicatrix (Scar)
01/2022
1Cytochrome-c Oxidase Deficiency
01/2022
1Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
12/2021
1Diaphanospondylodysostosis
12/2021
1Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease)
07/2021
1Motor Neuron Disease (Primary Lateral Sclerosis)
07/2021
1Sarcoglycanopathies
01/2020

Drug/Important Bio-Agent (IBA)

3Proteins (Proteins, Gene)FDA Link
02/2022 - 01/2020
2Proteasome Endopeptidase Complex (Proteasome)IBA
07/2023 - 05/2023
1Metronidazole (Metric)FDA LinkGeneric
03/2024
1Cephalosporins (Cephalosporin Antibiotics)IBA
03/2024
1Lactic Acid (Lactate)FDA LinkGeneric
01/2024
1Transaminases (Aminotransferases)IBA
01/2024
13-methylglutaconic acidIBA
01/2024
1DysferlinIBA
01/2022
1Creatine Kinase (Creatine Phosphokinase)IBA
01/2022
1Electron Transport Complex IV (Cytochrome c Oxidase)IBA
01/2022
1Wiskott-Aldrich Syndrome ProteinIBA
01/2022
1MetallochaperonesIBA
01/2022
1Acetylcholine (Acetylcholine Chloride)FDA Link
12/2021
1Bone Morphogenetic Proteins (Bone Morphogenetic Protein)IBA
12/2021
1SphingolipidsIBA
07/2021