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Raphael Schiffmann Selected Research

Fabry Disease (Fabry's Disease)

12/2021Corrigendum to "Long-term follow-up of renal function in patients treated with migalastat for Fabry disease" [Bichet et al., MGM Reports; 28 (2021) 100786].
9/2021Long-term follow-up of renal function in patients treated with migalastat for Fabry disease.
1/2021Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease.
1/2021Migalastat Tissue Distribution: Extrapolation From Mice to Humans Using Pharmacokinetic Modeling and Comparison With Agalsidase Beta Tissue Distribution in Mice.
1/2021Correction: Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease.
11/2020Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model.
1/2020Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort.
12/2019Unique molecular signature in mucolipidosis type IV microglia.
10/2019Symptoms and Quality of Life in Patients with Fabry Disease: Results from an International Patient Survey.
9/2019The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease.
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Raphael Schiffmann Research Topics

Disease

72Fabry Disease (Fabry's Disease)
12/2021 - 01/2002
15Leukoencephalopathies
12/2019 - 06/2003
13Gaucher Disease (Gaucher's Disease)
12/2019 - 01/2002
8Mucolipidoses (Sialidosis)
10/2021 - 03/2002
5Pain (Aches)
01/2021 - 01/2007
5Lysosomal Storage Diseases (Lysosomal Storage Disease)
12/2019 - 01/2002
5Ataxia (Dyssynergia)
12/2009 - 04/2004
4Coronary Artery Disease (Coronary Atherosclerosis)
10/2018 - 12/2016
4Stroke (Strokes)
09/2007 - 06/2002
3Hypertrophy
11/2020 - 01/2007
3Neuralgia (Stump Neuralgia)
10/2020 - 09/2004
3Adult Form Polyglucosan Body Disease
01/2018 - 02/2013
3Atrophy
11/2017 - 04/2004
3Chronic Renal Insufficiency
11/2016 - 02/2006
3Renal Insufficiency (Renal Failure)
06/2015 - 06/2002
3Proteinuria
02/2010 - 09/2005
3Vanishing White Matter Leukodystrophy with Ovarian Failure
02/2008 - 07/2004
2Angiokeratoma
10/2020 - 07/2005
2Dystonia (Limb Dystonia)
02/2019 - 01/2018
2Cardiovascular Diseases (Cardiovascular Disease)
06/2017 - 01/2017
2Parkinsonian Disorders (Parkinsonism)
01/2017 - 07/2004
2Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
06/2015 - 09/2009
2Heart Diseases (Heart Disease)
02/2014 - 06/2002
2Globoid Cell Leukodystrophy (Krabbe Disease)
10/2013 - 08/2010
2Huntington Disease (Huntington's Disease)
01/2012 - 03/2011
2Pelizaeus-Merzbacher Disease
11/2010 - 03/2006
2Mucopolysaccharidoses
08/2010 - 01/2002
2Disease Progression
02/2010 - 03/2002
2Xeroderma Pigmentosum (Kaposi's Disease)
11/2009 - 01/2009
2Neoplasms (Cancer)
11/2009 - 01/2009
2Chronic Kidney Failure (Chronic Renal Failure)
05/2009 - 01/2007
2Neurologic Manifestations (Neurological Manifestations)
11/2008 - 06/2006
2Inborn Genetic Diseases (Disease, Hereditary)
10/2005 - 12/2004
2Mucopolysaccharidosis I (Hurler Syndrome)
12/2004 - 01/2002
1Cerebrovascular Disorders (Cerebrovascular Occlusion)
01/2020
1Neuroinflammatory Diseases
12/2019
1Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)
12/2019
1Sialorrhea
01/2018
1Priapism
01/2018
1Diarrhea
01/2018
1Phenylketonurias (Phenylketonuria)
01/2017
1Ischemic Stroke
11/2016
1Peripheral Nervous System Diseases (PNS Diseases)
11/2016

Drug/Important Bio-Agent (IBA)

27EnzymesIBA
11/2020 - 02/2002
23alpha-Galactosidase (Beano)IBA
09/2010 - 02/2002
18GalactosidasesIBA
11/2020 - 08/2011
17agalsidase alfaIBA
01/2021 - 02/2006
15globotriaosylceramide (globotriosylceramide)IBA
11/2020 - 01/2002
14migalastatIBA
12/2021 - 07/2007
14GlycosphingolipidsIBA
11/2020 - 12/2003
9GlycolipidsIBA
11/2020 - 01/2002
8Proteins (Proteins, Gene)FDA Link
01/2015 - 01/2002
8Eukaryotic Initiation Factor-2B (Eukaryotic Initiation Factor 2B)IBA
12/2009 - 06/2003
7Biomarkers (Surrogate Marker)IBA
01/2018 - 07/2005
7Glucosylceramidase (Glucocerebrosidase)IBA
01/2017 - 03/2003
4Protein Isoforms (Isoforms)IBA
11/2020 - 03/2003
4DNA (Deoxyribonucleic Acid)IBA
02/2014 - 12/2004
3globotriaosyl lysosphingolipidIBA
01/2021 - 11/2020
3Aspirin (Acetylsalicylic Acid)FDA LinkGeneric
10/2018 - 01/2017
3Lactic Acid (Lactate)FDA LinkGeneric
08/2017 - 04/2004
2Glycoproteins (Glycoprotein)IBA
11/2020 - 01/2015
2Pharmaceutical PreparationsIBA
10/2019 - 01/2016
2Mannose (D-Mannose)IBA
01/2019 - 11/2005
211-dehydro-thromboxane B2IBA
10/2018 - 01/2017
21,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)IBA
01/2018 - 04/2015
2triheptanoinIBA
01/2018 - 05/2016
2TubulinIBA
11/2017 - 05/2013
2Thromboxane B2IBA
06/2017 - 12/2016
2AntioxidantsIBA
01/2017 - 04/2008
2LipidsIBA
02/2014 - 02/2005
2Glucosylceramides (Glucocerebrosides)IBA
12/2011 - 02/2005
2Reactive Oxygen Species (Oxygen Radicals)IBA
11/2008 - 10/2004
2miglustat (Zavesca)FDA Link
11/2008 - 01/2002
2Biological ProductsIBA
04/2008 - 02/2007
2sphingosyl beta-glucosideIBA
02/2005 - 03/2003
2Peptide Initiation Factors (Initiation Factor)IBA
07/2004 - 04/2004
2Choline (Choline Chloride)IBA
07/2003 - 10/2002
2CreatineIBA
07/2003 - 10/2002
2N-acetylaspartate (N-acetyl aspartate)IBA
07/2003 - 10/2002
1IronIBA
10/2021
1agalsidase betaFDA Link
01/2021
1SphingosineIBA
11/2020
1Fatty Acids (Saturated Fatty Acids)IBA
11/2020
1galabiosylceramideIBA
11/2020
1AlbuminsIBA
10/2020
1TroponinIBA
10/2020
1CreatinineIBA
10/2020
1RNA (Ribonucleic Acid)IBA
12/2019
1Lysergic Acid Diethylamide (LSD)IBA
12/2019
1RNA Polymerase IIIIBA
02/2019
1Mannose ReceptorIBA
01/2019
1Adenosine (Adenocard)FDA LinkGeneric
01/2018
1ThromboxanesIBA
06/2017
1Nitric Oxide Synthase (NO Synthase)IBA
01/2017
1sapropterin (tetrahydrobiopterin)FDA Link
01/2017
1F2-Isoprostanes (F2 Isoprostanes)IBA
12/2016

Therapy/Procedure

38Enzyme Replacement Therapy
09/2021 - 03/2002
17Therapeutics
01/2021 - 02/2006
1Stem Cell Transplantation
12/2019
1Gastrostomy
01/2018