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Melanie B Berkmen Selected Research

Fumaric aciduria

1/2020Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency.
1/2018Biochemical Characterization of Two Clinically-Relevant Human Fumarase Variants Defective for Oligomerization.

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Melanie B Berkmen Research Topics

Disease

1Metabolic Diseases (Metabolic Disease)
01/2020
1Infantile Spasms (West Syndrome)
01/2020
1Spasm (Spasms)
01/2020
1Seizures (Absence Seizure)
01/2020
1Status Epilepticus (Complex Partial Status Epilepticus)
01/2020
1Hereditary leiomyomatosis and renal cell cancer
01/2018
1Shock
12/2009
1Starvation
05/2005

Drug/Important Bio-Agent (IBA)

2FHDIBA
01/2020 - 01/2018
2Fumaric aciduriaIBA
01/2020 - 01/2018
2Fumarate Hydratase (Fumarase)IBA
01/2020 - 01/2018
1LacosamideFDA Link
01/2020
1EnzymesIBA
01/2020
1Benzoates (Benzoate)IBA
12/2009
1AlkaliesIBA
12/2009
1malic acid (malate)IBA
12/2009
1Transfer RNA (tRNA)IBA
05/2005
1Amino AcidsFDA Link
05/2005
1Guanosine TetraphosphateIBA
05/2005