Charles Schwartz Selected Research

Snyder Robinson syndrome

1/2016	Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase.
9/2013	A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.
3/2011	Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry.
10/2009	The impact of spermine synthase (SMS) mutations on brain morphology.

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Charles Schwartz Research Topics

Disease

4	Snyder Robinson syndrome 01/2016 - 10/2009
3	Intellectual Disability (Idiocy) 01/2023 - 11/2016
3	X-Linked Mental Retardation (Mental Retardation, X Linked) 10/2009 - 08/2007
2	Neurodevelopmental Disorders 01/2023 - 11/2022
2	Cardiogenic Shock 07/2022 - 07/2004
1	Endocarditis 04/2023
1	Autism Spectrum Disorder 01/2023
1	Nausea 11/2022
1	Pain (Aches) 11/2022
1	Postoperative Pain 11/2022
1	Vomiting 11/2022
1	Infarction (Infarctions) 07/2022
1	Kabuki syndrome 01/2017
1	ATR-X syndrome 01/2017
1	Ventricular Remodeling 06/2014
1	Atrial Fibrillation 06/2014
1	Epilepsy (Aura) 04/2008
1	Microcephaly 04/2008
1	Ataxia (Dyssynergia) 04/2008
1	Angelman Syndrome (Syndrome, Angelman) 04/2008
1	Borjeson-Forssman-Lehmann syndrome 12/2004
1	Right Ventricular Dysfunction 07/2004
1	Acquired Immunodeficiency Syndrome (AIDS) 06/2003
1	Chronic Disease (Chronic Diseases) 06/2003

Drug/Important Bio-Agent (IBA)

3	Spermine SynthaseIBA 01/2016 - 10/2009
2	DNA (Deoxyribonucleic Acid)IBA 11/2016 - 04/2008
2	Proteins (Proteins, Gene)FDA Link 01/2016 - 08/2007
1	diazonaphthalenedisulfonic acid (NDS)IBA 01/2023
1	Opioid Analgesics (Opioids)IBA 11/2022
1	Bupivacaine (Bupivacaine Hydrochloride)FDA LinkGeneric 11/2022
1	Buprenorphine (Subutex)FDA LinkGeneric 11/2022
1	ElementsIBA 11/2022
1	MagnesiumIBA 11/2022
1	AcetylglucosamineIBA 01/2017
1	Histones (Histone)IBA 01/2017
1	O-GlcNAc transferaseIBA 01/2017
1	Histone MethyltransferasesIBA 01/2017
1	Amino Acids FDA Link 01/2017
1	ChromatinIBA 01/2017
1	SpermineIBA 03/2011
1	SpermidineIBA 03/2011
1	PolyaminesIBA 03/2011
1	Sodium-Hydrogen ExchangersIBA 04/2008
1	Transcription Factors (Transcription Factor)IBA 12/2004
1	Complex MixturesIBA 06/2003

Therapy/Procedure

2	Coronary Artery Bypass (Coronary Artery Bypass Surgery) 11/2022 - 07/2022
2	Therapeutics 06/2014 - 06/2003
1	Transcatheter Aortic Valve Replacement 04/2023
1	Length of Stay 11/2022
1	Thrombolytic Therapy 07/2004
1	Activities of Daily Living (ADL) 06/2003
1	Palliative Care (Palliative Therapy) 06/2003
1	Ambulatory Care (Outpatient Care) 06/2003