Raphael Schiffmann Selected Research

Proteinuria

2/2010	Biomarkers of Fabry disease nephropathy.
5/2009	Agalsidase alfa and kidney dysfunction in Fabry disease.
9/2005	The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women.

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Raphael Schiffmann Research Topics

Disease

76	Fabry Disease (Fabry's Disease) 11/2023 - 01/2002
15	Leukoencephalopathies 12/2019 - 06/2003
14	Gaucher Disease (Gaucher's Disease) 01/2023 - 01/2002
8	Mucolipidoses (Sialidosis) 10/2021 - 03/2002
6	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2023 - 01/2002
5	Pain (Aches) 01/2021 - 01/2007
5	Ataxia (Dyssynergia) 12/2009 - 04/2004
4	Coronary Artery Disease (Coronary Atherosclerosis) 10/2018 - 12/2016
4	Stroke (Strokes) 09/2007 - 06/2002
3	Disease Progression 01/2023 - 03/2002
3	Neurologic Manifestations (Neurological Manifestations) 01/2023 - 06/2006
3	Hypertrophy 11/2020 - 01/2007
3	Neuralgia (Stump Neuralgia) 10/2020 - 09/2004
3	Adult Form Polyglucosan Body Disease 01/2018 - 02/2013
3	Atrophy 11/2017 - 04/2004
3	Chronic Renal Insufficiency 11/2016 - 02/2006
3	Renal Insufficiency (Renal Failure) 06/2015 - 06/2002
3	Proteinuria 02/2010 - 09/2005
3	Vanishing White Matter Leukodystrophy with Ovarian Failure 02/2008 - 07/2004
2	Lung Diseases (Lung Disease) 01/2023 - 11/2008
2	Angiokeratoma 10/2020 - 07/2005
2	Dystonia (Limb Dystonia) 02/2019 - 01/2018
2	Cardiovascular Diseases (Cardiovascular Disease) 06/2017 - 01/2017
2	Parkinsonian Disorders (Parkinsonism) 01/2017 - 07/2004
2	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 06/2015 - 09/2009
2	Heart Diseases (Heart Disease) 02/2014 - 06/2002
2	Globoid Cell Leukodystrophy (Krabbe Disease) 10/2013 - 08/2010
2	Huntington Disease (Huntington's Disease) 01/2012 - 03/2011
2	Pelizaeus-Merzbacher Disease 11/2010 - 03/2006
2	Mucopolysaccharidoses 08/2010 - 01/2002
2	Xeroderma Pigmentosum (Kaposi's Disease) 11/2009 - 01/2009
2	Neoplasms (Cancer) 11/2009 - 01/2009
2	Chronic Kidney Failure (Chronic Renal Failure) 05/2009 - 01/2007
2	Inborn Genetic Diseases (Disease, Hereditary) 10/2005 - 12/2004
2	Mucopolysaccharidosis I (Hurler Syndrome) 12/2004 - 01/2002
1	Glycogen Storage Disease Type IV (Andersen's Disease) 01/2023
1	Chronic Disease (Chronic Diseases) 01/2023
1	Cerebrovascular Disorders (Cerebrovascular Occlusion) 01/2020
1	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 12/2019
1	Neuroinflammatory Diseases 12/2019
1	Sialorrhea 01/2018
1	Priapism 01/2018
1	Diarrhea 01/2018

Drug/Important Bio-Agent (IBA)

28	EnzymesIBA 01/2023 - 02/2002
23	alpha-Galactosidase (Beano)IBA 09/2010 - 02/2002
21	GalactosidasesIBA 11/2023 - 08/2011
17	agalsidase alfaIBA 01/2021 - 02/2006
16	GlycosphingolipidsIBA 01/2023 - 12/2003
16	globotriaosylceramide (globotriosylceramide)IBA 01/2023 - 01/2002
14	migalastatIBA 12/2021 - 07/2007
9	GlycolipidsIBA 11/2020 - 01/2002
8	Biomarkers (Surrogate Marker)IBA 01/2023 - 07/2005
8	Proteins (Proteins, Gene)FDA Link 01/2015 - 01/2002
8	Eukaryotic Initiation Factor-2B (Eukaryotic Initiation Factor 2B)IBA 12/2009 - 06/2003
7	Glucosylceramidase (Glucocerebrosidase)IBA 01/2017 - 03/2003
4	Protein Isoforms (Isoforms)IBA 11/2020 - 03/2003
4	DNA (Deoxyribonucleic Acid)IBA 02/2014 - 12/2004
3	sphingosyl beta-glucosideIBA 01/2023 - 03/2003
3	Glucosylceramides (Glucocerebrosides)IBA 01/2023 - 02/2005
3	1,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)IBA 01/2023 - 04/2015
3	globotriaosyl lysosphingolipidIBA 01/2021 - 11/2020
3	Aspirin (Acetylsalicylic Acid)FDA LinkGeneric 10/2018 - 01/2017
3	Lactic Acid (Lactate)FDA LinkGeneric 08/2017 - 04/2004
2	Glycoproteins (Glycoprotein)IBA 11/2020 - 01/2015
2	Mannose (D-Mannose)IBA 01/2019 - 11/2005
2	11-dehydro-thromboxane B2IBA 10/2018 - 01/2017
2	triheptanoinIBA 01/2018 - 05/2016
2	TubulinIBA 11/2017 - 05/2013
2	Thromboxane B2IBA 06/2017 - 12/2016
2	AntioxidantsIBA 01/2017 - 04/2008
2	LipidsIBA 02/2014 - 02/2005
2	Reactive Oxygen Species (Oxygen Radicals)IBA 11/2008 - 10/2004
2	miglustat (Zavesca)FDA Link 11/2008 - 01/2002
2	Peptide Initiation Factors (Initiation Factor)IBA 07/2004 - 04/2004
2	Choline (Choline Chloride)IBA 07/2003 - 10/2002
2	CreatineIBA 07/2003 - 10/2002
2	N-acetylaspartate (N-acetyl aspartate)IBA 07/2003 - 10/2002
1	Ascorbic Acid (Vitamin C)FDA LinkGeneric 01/2023
1	venglustatIBA 01/2023
1	imiglucerase FDA Link 01/2023
1	IronIBA 10/2021
1	agalsidase beta FDA Link 01/2021
1	SphingosineIBA 11/2020
1	galabiosylceramideIBA 11/2020
1	Fatty Acids (Saturated Fatty Acids)IBA 11/2020
1	AlbuminsIBA 10/2020
1	CreatinineIBA 10/2020
1	TroponinIBA 10/2020
1	RNA (Ribonucleic Acid)IBA 12/2019
1	Lysergic Acid Diethylamide (LSD)IBA 12/2019
1	RNA Polymerase IIIIBA 02/2019
1	Mannose ReceptorIBA 01/2019
1	Adenosine (Adenocard)FDA LinkGeneric 01/2018
1	ThromboxanesIBA 06/2017
1	Nitric Oxide Synthase (NO Synthase)IBA 01/2017
1	sapropterin (tetrahydrobiopterin)FDA Link 01/2017

Therapy/Procedure

39	Enzyme Replacement Therapy 01/2023 - 03/2002
19	Therapeutics 11/2023 - 02/2006
1	Stem Cell Transplantation 12/2019
1	Gastrostomy 01/2018