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Sylvia G Stockler-Ipsiroglu Selected Research

Brain Diseases (Brain Disorder)

10/2019De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.

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Sylvia G Stockler-Ipsiroglu Research Topics

Disease

1Brain Diseases (Brain Disorder)
10/2019
1Lethargy
12/2018
1Metabolic Diseases (Metabolic Disease)
12/2018
1Constipation
12/2018
1acute flaccid myelitis
12/2018
1Cognitive Dysfunction
01/2018
1Intellectual Disability (Idiocy)
01/2018
1Ganglion Cysts (Ganglion)
08/2016
1succinic semialdehyde dehydrogenase deficiency
08/2016
1Spastic Paraparesis
11/2011
1Autistic Disorder (Autism)
11/2011
1Migraine Disorders (Migraine)
11/2011
1Myoclonus (Nocturnal Myoclonus)
11/2011
1Seizures (Absence Seizure)
11/2011
1Mood Disorders (Mood Disorder)
11/2011
1Migraine with Aura (Familial Hemiplegic Migraine)
11/2011
1Coma (Comas)
11/2011
1Medium chain acyl CoA dehydrogenase deficiency
07/2008
1B BH4-Deficient Hyperphenylalaninemia
05/2008

Drug/Important Bio-Agent (IBA)

1Growth Hormone (Somatotropin)IBA
10/2019
1Lactic Acid (Lactate)FDA LinkGeneric
12/2018
1Pyruvic Acid (Pyruvate)IBA
12/2018
1Alanine (L-Alanine)FDA Link
12/2018
1KetonesIBA
12/2018
1Nucleosomes (Nucleosome)IBA
01/2018
1Proteins (Proteins, Gene)FDA Link
01/2018
1Histone Acetyltransferases (Histone Acetyltransferase)IBA
01/2018
1TaurineFDA Link
08/2016
1VigabatrinFDA Link
08/2016
1Succinate-Semialdehyde Dehydrogenase (Succinic Semialdehyde Dehydrogenase)IBA
08/2016
1Aminobutyrates (Aminobutyric Acid)IBA
08/2016
1Serotonin (5 Hydroxytryptamine)IBA
11/2011
1Serotonin Plasma Membrane Transport Proteins (Serotonin Transporter)IBA
11/2011
1acylcarnitineIBA
07/2008
1Fatty Acids (Saturated Fatty Acids)IBA
07/2008
1Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA
07/2008
1GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA
05/2008

Therapy/Procedure

1Therapeutics
08/2016