Ron A Wevers Selected Research

Wrinkly skin syndrome

9/2009

Autosomal recessive cutis laxa syndrome revisited.

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Ron A Wevers Research Topics

Disease

16	Congenital Disorders of Glycosylation 12/2015 - 11/2003
11	Intellectual Disability (Idiocy) 05/2022 - 06/2009
11	Inborn Errors Metabolism (Inborn Errors of Metabolism) 08/2021 - 01/2004
9	Neoplasms (Cancer) 01/2022 - 12/2009
8	Epilepsy (Aura) 01/2021 - 01/2010
7	Movement Disorders (Movement Disorder) 05/2022 - 08/2008
7	Cutis Laxa 11/2020 - 06/2005
7	Dystonia (Limb Dystonia) 01/2016 - 03/2002
6	Seizures (Absence Seizure) 10/2020 - 02/2006
5	Brain Diseases (Brain Disorder) 10/2020 - 01/2003
5	Disease Progression 01/2019 - 03/2002
5	Glut1 Deficiency Syndrome 01/2017 - 06/2012
5	Mucopolysaccharidosis III (Sanfilippo Syndrome) 12/2010 - 05/2003
4	Hypoglycemia (Reactive Hypoglycemia) 06/2022 - 01/2012
4	Phenylketonurias (Phenylketonuria) 01/2021 - 02/2011
4	Cerebrotendinous Xanthomatosis 01/2019 - 12/2005
4	Mitochondrial Diseases (Mitochondrial Disease) 01/2018 - 01/2012
4	Nervous System Diseases (Neurological Disorders) 01/2016 - 01/2012
4	Cataract (Cataracts) 02/2015 - 10/2006
4	Type I 3-Methylglutaconic Aciduria 01/2014 - 04/2006
3	Paraganglioma (Paragangliomas) 01/2022 - 07/2013
3	Pheochromocytoma 01/2022 - 07/2013
3	Pyridoxine-dependent epilepsy 11/2021 - 10/2005
3	Sjogren-Larsson Syndrome 11/2020 - 01/2015
3	Inflammation (Inflammations) 01/2020 - 01/2017
3	Infections 12/2018 - 06/2012
3	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2018 - 10/2012
3	Muscle Hypotonia (Hypotonia) 01/2018 - 01/2012
3	Congenital disorder of glycosylation type II 12/2015 - 03/2013
3	Mucopolysaccharidoses 01/2015 - 11/2006
3	3-Methylglutaconic Aciduria 01/2014 - 01/2012
3	Proteinuria 08/2013 - 03/2007
3	Deafness (Deaf Mutism) 06/2012 - 03/2007
3	Ovarian Cysts (Ovarian Cyst) 07/2010 - 12/2009
3	autosomal recessive Segawa syndrome 06/2010 - 03/2002
3	recessive Cutis laxa 09/2009 - 06/2005
3	Spinal Dysraphism (Spina Bifida) 01/2004 - 02/2003
2	Diabetes Mellitus 06/2022 - 01/2021
2	Heart Failure 06/2022 - 03/2013
2	Traumatic Brain Injuries (Traumatic Brain Injury) 06/2022 - 01/2016
2	Heart Diseases (Heart Disease) 06/2022 - 08/2013
2	Ataxia (Dyssynergia) 12/2021 - 08/2013
2	Ataxia Telangiectasia (Louis Bar Syndrome) 12/2021 - 11/2020
2	Orthostatic Hypotension (Postural Hypotension) 01/2021 - 01/2018
2	Drug Resistant Epilepsy 01/2021 - 10/2012
2	Anemia 10/2020 - 02/2011
2	Type 2 Diabetes Mellitus (MODY) 01/2020 - 01/2017
2	Obesity 01/2020 - 01/2019
2	Hyperammonemia 01/2019 - 01/2017
2	Leukoencephalopathies 01/2019 - 04/2006
2	Muscular Diseases (Myopathy) 12/2018 - 08/2013
2	Sialic Acid Storage Disease (Salla Disease) 12/2018 - 06/2006
2	Cardiomyopathies (Cardiomyopathy) 01/2018 - 04/2014
2	Hearing Loss (Hearing Impairment) 01/2018 - 11/2009

Drug/Important Bio-Agent (IBA)

19	Proteins (Proteins, Gene)FDA Link 01/2019 - 05/2002
15	Biomarkers (Surrogate Marker)IBA 11/2021 - 11/2009
14	Glucose (Dextrose)FDA LinkGeneric 01/2021 - 07/2002
11	EnzymesIBA 08/2021 - 12/2005
9	Lactic Acid (Lactate)FDA LinkGeneric 06/2022 - 07/2002
8	AcidsIBA 01/2019 - 03/2007
8	Transferrin (beta 2 Transferrin)IBA 12/2015 - 12/2005
7	Polysaccharides (Glycans)IBA 04/2011 - 05/2002
6	Protons (Proton)IBA 01/2015 - 07/2002
6	LipidsIBA 01/2015 - 12/2005
5	Levodopa (L Dopa)FDA LinkGeneric 03/2021 - 03/2002
5	Succinic Acid (Succinate)IBA 05/2017 - 07/2002
5	Leucine (L-Leucine)FDA Link 01/2014 - 04/2006
5	Apolipoprotein C-IIIIBA 09/2009 - 11/2003
5	Inositol (Myoinositol)IBA 07/2004 - 07/2002
4	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 06/2005
4	CatecholaminesIBA 01/2022 - 03/2002
4	CholesterolIBA 01/2019 - 06/2012
4	Glycoproteins (Glycoprotein)IBA 12/2018 - 12/2009
4	3-methylglutaconic acidIBA 02/2015 - 04/2006
3	UridineIBA 10/2020 - 01/2017
3	pyrimidineIBA 10/2020 - 11/2004
3	Leucovorin (Folinic Acid)FDA Link 01/2019 - 02/2006
3	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2019 - 02/2006
3	CreatineIBA 05/2017 - 07/2002
3	Amino Acids FDA Link 01/2017 - 04/2010
3	CollagenIBA 01/2017 - 11/2010
3	ManganeseIBA 01/2016 - 03/2012
3	Dystroglycans (Dystroglycan)IBA 05/2015 - 07/2009
3	Phospholipids (Phosphatides)FDA LinkGeneric 01/2015 - 06/2012
3	ElastinIBA 04/2014 - 09/2009
3	ZincIBA 07/2004 - 02/2003
2	nicotinamide-beta-ribosideIBA 12/2021 - 11/2020
2	Lysine (L-Lysine)FDA Link 11/2021 - 01/2021
2	pipecolic acidIBA 11/2021 - 10/2005
2	Phenylalanine (L-Phenylalanine)FDA Link 01/2021 - 01/2018
2	long-chain-aldehyde dehydrogenaseIBA 11/2020 - 01/2015
2	Adenosine Triphosphate (ATP)IBA 01/2020 - 07/2013
2	Bile Acids and Salts (Bile Acids)IBA 01/2019 - 01/2017
2	Messenger RNA (mRNA)IBA 01/2019 - 02/2015
2	Chenodeoxycholic Acid (Chenix)FDA Link 01/2019 - 01/2017
2	GlycolipidsIBA 12/2018 - 12/2009
2	Oxidoreductases (Dehydrogenase)IBA 01/2018 - 05/2013
2	Neurotransmitter Agents (Neurotransmitter)IBA 01/2018 - 01/2003

Therapy/Procedure

5	Therapeutics 06/2016 - 03/2002
3	Ketogenic Diet 01/2018 - 03/2010