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ArticlesPeer ReviewedFull Text
Therapeutic approaches for neuronopathic lysosomal storage disorders
Author / Creator:Schiffmann, Raphael
Publisher:Dordrecht: Dordrecht : Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2010-08, Vol.33 (4), p.373-379
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ArticlesPeer ReviewedFull Text
Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
Author / Creator:Germain, Dominique P ; Hughes, Derralynn A ; Nicholls, Kathleen ; Bichet, Daniel G ; Giugliani, Roberto ; Wilcox, William R ; Feliciani, Claudio ; Shankar, Suma P ; Ezgu, Fatih ; Amartino, Hernan ; Bratkovic, Drago ; Feldt-Rasmussen, Ulla ; Nedd, Khan ; Sharaf El Din, Usama ; Lourenco, Charles M ; Banikazemi, Maryam ; Charrow, Joel ; Dasouki, Majed ; Finegold, David ; Giraldo, Pilar ; Goker-Alpan, Ozlem ; Longo, Nicola ; Scott, C. Ronald ; Torra, Roser ; Tuffaha, Ahmad ; Jovanovic, Ana ; Waldek, Stephen ; Packman, Seymour ; Ludington, Elizabeth ; Viereck, Christopher ; Kirk, John ; Yu, Julie ; Benjamin, Elfrida R ; Johnson, Franklin ; Lockhart, David J ; Skuban, Nina ; Castelli, Jeff ; Barth, Jay ; Barlow, Carrolee ; Schiffmann, Raphael
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2016-08, Vol.375 (6), p.545-555
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ArticlesPeer ReviewedFull Text
The glycosylation design space for recombinant lysosomal replacement enzymes produced in CHO cells
Author / Creator:Tian, Weihua ; Ye, Zilu ; Wang, Shengjun ; Schulz, Morten Alder ; Van Coillie, Julie ; Sun, Lingbo ; Chen, Yen-Hsi ; Narimatsu, Yoshiki ; Hansen, Lars ; Kristensen, Claus ; Mandel, Ulla ; Bennett, Eric Paul ; Jabbarzadeh-Tabrizi, Siamak ; Schiffmann, Raphael ; Shen, Jin-Song ; Vakhrushev, Sergey Y. ; Clausen, Henrik ; Yang, Zhang
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-04, Vol.10 (1), p.1785-1785, Article 1785
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ArticlesPeer ReviewedFull Text
Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease
Author / Creator:Bichet, Daniel G. ; Aerts, Johannes M. ; Auray-Blais, Christiane ; Maruyama, Hiroki ; Mehta, Atul B. ; Skuban, Nina ; Krusinska, Eva ; Schiffmann, Raphael
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-01, Vol.23 (1), p.192-201
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ArticlesPeer ReviewedFull Text
Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease
Author / Creator:Zigdon, Hila ; Savidor, Alon ; Levin, Yishai ; Meshcheriakova, Anna ; Schiffmann, Raphael ; Futerman, Anthony H
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-03, Vol.10 (3), p.e0120194-e0120194
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ArticlesPeer ReviewedFull Text
Altered dopamine and serotonin metabolism in motorically asymptomatic R6/2 mice
Author / Creator:Mochel, Fanny ; Durant, Brandon ; Durr, Alexandra ; Schiffmann, Raphael
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-03, Vol.6 (3), p.e18336-e18336
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ArticlesPeer ReviewedFull Text
Lamin B1 duplications cause autosomal dominant leukodystrophy
Author / Creator:Padiath, Quasar S ; Saigoh, Kazumasa ; Schiffmann, Raphael ; Asahara, Hideaki ; Yamada, Takeshi ; Koeppen, Anulf ; Hogan, Kirk ; Ptáček, Louis J ; Fu, Ying-Hui
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2006-10, Vol.38 (10), p.1114-1123
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ArticlesPeer ReviewedFull Text
Optimizing human α-galactosidase for treatment of Fabry disease
Author / Creator:Hallows, William C. ; Skvorak, Kristen ; Agard, Nick ; Kruse, Nikki ; Zhang, Xiyun ; Zhu, Yu ; Botham, Rachel C. ; Chng, Chinping ; Shukla, Charu ; Lao, Jessica ; Miller, Mathew ; Sero, Antoinette ; Viduya, Judy ; Ismaili, Moulay Hicham Alaoui ; McCluskie, Kerryn ; Schiffmann, Raphael ; Silverman, Adam P. ; Shen, Jin-Song ; Huisman, Gjalt W.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2023-03, Vol.13 (1), p.4748-4748, Article 4748
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ArticlesPeer ReviewedFull Text
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature
Author / Creator:Potic, Ana ; Perrier, Stefanie ; Radovic, Tijana ; Gavrilovic, Svetlana ; Ostojic, Jelena ; Tran, Luan T ; Thiffault, Isabelle ; Pastinen, Tomi ; Schiffmann, Raphael ; Bernard, Geneviève
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.187-187, Article 187
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ArticlesPeer ReviewedFull Text
Correction: Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease
Author / Creator:Bichet, Daniel G. ; Aerts, Johannes M. ; Auray-Blais, Christiane ; Maruyama, Hiroki ; Mehta, Atul B. ; Skuban, Nina ; Krusinska, Eva ; Schiffmann, Raphael
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-01, Vol.23 (1), p.238-238
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ArticlesPeer ReviewedFull Text
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects
Author / Creator:Zhang, Jinglan ; Lachance, Véronik ; Schaffner, Adam ; Li, Xianting ; Fedick, Anastasia ; Kaye, Lauren E ; Liao, Jun ; Rosenfeld, Jill ; Yachelevich, Naomi ; Chu, Mary-Lynn ; Mitchell, Wendy G ; Boles, Richard G ; Moran, Ellen ; Tokita, Mari ; Gorman, Elizabeth ; Bagley, Kaytee ; Zhang, Wei ; Xia, Fan ; Leduc, Magalie ; Yang, Yaping ; Eng, Christine ; Wong, Lee-Jun ; Schiffmann, Raphael ; Diaz, George A ; Kornreich, Ruth ; Thummel, Ryan ; Wasserstein, Melissa ; Yue, Zhenyu ; Edelmann, Lisa
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2016-04, Vol.12 (4), p.e1005848-e1005848
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ArticlesPeer ReviewedFull Text
White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology
Author / Creator:Zerem, Ayelet ; Ben-Sira, Liat ; Vigdorovich, Nitzan ; Leibovitz, Zvi ; Fisher, Yael ; Schiffmann, Raphael ; Grishchuk, Yulia ; Misko, Albert L. ; Orenstein, Naama ; Lev, Dorit ; Lerman-Sagie, Tally ; Kidron, Debora
Publisher:New York: Springer US
Journal title:Metabolic brain disease, 2021-10, Vol.36 (7), p.2155-2167
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ArticlesPeer ReviewedFull Text
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus init...
Author / Creator:Hughes, Derralynn A ; Aguiar, Patricio ; Deegan, Patrick B ; Ezgu, Fatih ; Frustaci, Andrea ; Lidove, Olivier ; Linhart, Aleš ; Lubanda, Jean-Claude ; Moon, James C ; Nicholls, Kathleen ; Niu, Dau-Ming ; Nowak, Albina ; Ramaswami, Uma ; Reisin, Ricardo ; Rozenfeld, Paula ; Schiffmann, Raphael ; Svarstad, Einar ; Thomas, Mark ; Torra, Roser ; Vujkovac, Bojan ; Warnock, David G ; West, Michael L ; Johnson, Jack ; Rolfe, Mark J ; Feriozzi, Sandro
Publisher:England: British Medical Journal Publishing Group
Journal title:BMJ open, 2020-10, Vol.10 (10), p.e035182-e035182
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ArticlesPeer ReviewedFull Text
Unique molecular signature in mucolipidosis type IV microglia
Author / Creator:Cougnoux, Antony ; Drummond, Rebecca A ; Fellmeth, Mason ; Navid, Fatemeh ; Collar, Amanda L ; Iben, James ; Kulkarni, Ashok B ; Pickel, James ; Schiffmann, Raphael ; Wassif, Christopher A ; Cawley, Niamh X ; Lionakis, Michail S ; Porter, Forbes D
Publisher:England: BioMed Central Ltd
Journal title:Journal of neuroinflammation, 2019-12, Vol.16 (1), p.276-276, Article 276
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ArticlesPeer ReviewedFull Text
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial
Author / Creator:Schiffmann, Raphael ; Bichet, Daniel G ; Jovanovic, Ana ; Hughes, Derralynn A ; Giugliani, Roberto ; Feldt-Rasmussen, Ulla ; Shankar, Suma P ; Barisoni, Laura ; Colvin, Robert B ; Jennette, J Charles ; Holdbrook, Fred ; Mulberg, Andrew ; Castelli, Jeffrey P ; Skuban, Nina ; Barth, Jay A ; Nicholls, Kathleen
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-04, Vol.13 (1), p.68-68, Article 68
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ArticlesPeer ReviewedFull Text
The saccadic and neurological deficits in type 3 Gaucher disease
Author / Creator:Benko, William ; Ries, Markus ; Wiggs, Edythe A ; Brady, Roscoe O ; Schiffmann, Raphael ; Fitzgibbon, Edmond J
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-07, Vol.6 (7), p.e22410-e22410
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ArticlesPeer ReviewedFull Text
Urinary 11-Dehydro-Thromboxane B2 and Mortality in Patients With Stable Coronary Artery Disease
Author / Creator:McCullough, Peter A., MD, MPH ; Vasudevan, Anupama, BDS, MPH, PhD ; Sathyamoorthy, Mohanakrishnan, MD, MS ; Schussler, Jeffrey M., MD ; Velasco, Carlos E., MD ; Lopez, Luis R., MD ; Swift, Caren, RN, BSN ; Peterson, Margarita ; Bennett-Firmin, Jenna ; Schiffmann, Raphael, MD, MHSc ; Bottiglieri, Teodoro, PhD
Publisher:Elsevier Inc
Journal title:The American journal of cardiology, 2017-04, Vol.119 (7), p.972-977
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ArticlesPeer ReviewedFull Text
Comparison of efficacy between subcutaneous and intravenous application of moss-aGal in the mouse model of Fabry disease
Author / Creator:Dabrowska-Schlepp, Paulina ; Busch, Andreas ; Shen, Jin-Song ; Cheong, Rachel Y ; Madsen, Lone Bruhn ; Mascher, Daniel ; Schiffmann, Raphael ; Schaaf, Andreas
Publisher:United States: John Wiley & Sons, Inc
Journal title:JIMD reports, 2023-11, Vol.64 (6), p.460-467
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ArticlesPeer ReviewedFull Text
Enzyme-replacement therapy for metabolic storage disorders
Author / Creator:Brady, Roscoe O ; Schiffmann, Raphael
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2004-12, Vol.3 (12), p.752-756
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Newsletter articlesFull Text
Fabry Disease; Long-Term Data Confirms Benefit Of Enzyme Replacement Therapy: 1
Publisher:Atlanta: NewsRx
Journal title:Drug Week, 2001, p.22
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Therapeutic approaches for neuronopathic lysosomal storage disorders

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Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

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The glycosylation design space for recombinant lysosomal replacement enzymes produced in CHO cells

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Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease

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Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease

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Altered dopamine and serotonin metabolism in motorically asymptomatic R6/2 mice

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Lamin B1 duplications cause autosomal dominant leukodystrophy

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Optimizing human α-galactosidase for treatment of Fabry disease

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Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature

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Correction: Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease

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A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

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White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology

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Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus init...

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Unique molecular signature in mucolipidosis type IV microglia

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Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial

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The saccadic and neurological deficits in type 3 Gaucher disease

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Urinary 11-Dehydro-Thromboxane B2 and Mortality in Patients With Stable Coronary Artery Disease

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Comparison of efficacy between subcutaneous and intravenous application of moss-aGal in the mouse model of Fabry disease

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Enzyme-replacement therapy for metabolic storage disorders

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Fabry Disease; Long-Term Data Confirms Benefit Of Enzyme Replacement Therapy: 1

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