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Raphael Schiffmann

Raphael Schiffmann

D-Index & Metrics

Medicine

D-Index
101
Citations
32302
World Ranking
8056
National Ranking
4183

Overview

Raphael Schiffmann is affiliated with Baylor University in the United States. Their research primarily addresses topics in Medicine and Biochemistry, Genetics and Molecular Biology, with a focus on several subfields including Physiology, Molecular Biology, Organic Chemistry, Cell Biology, and Rheumatology.

The scientist's work covers key research areas such as Lysosomal Storage Disorders Research, Carbohydrate Chemistry and Synthesis, Cellular transport and secretion, RNA regulation and disease, Glycogen Storage Diseases and Myoclonus, Studies on Chitinases and Chitosanases, and Trypanosoma species research and implications.

Raphael Schiffmann has published extensively in a variety of scientific journals. Frequent publication venues include Molecular Genetics and Metabolism, Journal of Inherited Metabolic Disease, Genetics in Medicine, Molecular Genetics and Metabolism Reports, and Neurology Genetics.

Notable recent papers authored or coauthored by Schiffmann include:

  • The definition of neuronopathic Gaucher disease, 2020, Journal of Inherited Metabolic Disease
  • Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial, 2022, Brain

Frequent coauthors in their collaborations include Derralynn Hughes, Jin-Song Shen, Özlem Göker-Alpan, Daniel G. Bichet, and Ellen Sidransky. These collaborations have contributed to the breadth and depth of Schiffmann's scientific output.

Best Publications

  • Enzyme replacement therapy in Fabry disease: a randomized controlled trial.

    Raphael Schiffmann;Jeffrey B. Kopp;Howard A. Austin;Sharda Sabnis

  • Invited Article: An MRI-based approach to the diagnosis of white matter disorders

    Raphael Schiffmann;Marjo S. van der Knaap

  • Enzyme Therapy in Type 1 Gaucher Disease: Comparative Efficacy of Mannose-Terminated Glucocerebrosidase from Natural and Recombinant Sources

    Gregory A. Grabowski;Norman W. Barton;Gregory Pastores;James M. Dambrosia

  • Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.

    Mary H Branton;Raphael Schiffmann;Sharda G Sabnis;Gary J Murray

  • Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

    Dominique P Germain;Derralynn A Hughes;Kathleen Nicholls;Daniel G Bichet

  • Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

    Gert C Scheper;Thom van der Klok;Rob J van Andel;Carola G M van Berkel

  • Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

    Gillian Rice;Teresa Patrick;Rekha Parmar;Claire F Taylor

  • Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.

    Kenneth H. Kraemer;Nicholas J. Patronas;Raphael Schiffmann;Brian P. Brooks

  • Neuropathology provides clues to the pathophysiology of Gaucher disease

    Kondi Wong;Ellen Sidransky;Ajay Verma;Tonghui Mixon

  • Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

    Mei Sun;Ehud Goldin;Stefanie Stahl;John L. Falardeau

  • Lamin B1 duplications cause autosomal dominant leukodystrophy

    Quasar S Padiath;Kazumasa Saigoh;Kazumasa Saigoh;Raphael Schiffmann;Hideaki Asahara

  • Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease

    R. Schiffmann;G. J. Murray;D. Treco;P. Daniel

  • Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

    Raphael J. Schiffmann;David G. Warnock;Maryam Banikazemi;Jan Bultas

  • Parkinsonism among Gaucher disease carriers.

    O Goker-Alpan;R Schiffmann;M E LaMarca;R L Nussbaum

  • Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

    Derralynn A Hughes;Kathleen Nicholls;Suma P Shankar;Gere Sunder-Plassmann

  • Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

    N. Tayebi;Jamie M Walker;B. Stubblefield;E. Orvisky

  • Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

    A. Mehta;M. Beck;P. Elliott;R. Giugliani

  • Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting

    Raphael Schiffmann;Markus Ries;Margaret Timmons;John T. Flaherty

  • Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy.

    David F. Moore;Leland T.C. Scott;Mark T. Gladwin;Gheona Altarescu

  • Childhood ataxia with diffuse central nervous system hypomyelination

    Raphael Schiffmann;Johanna R. Moller;Bruce D. Trapp;Henry H L Shih

Frequent Co-Authors

Roscoe O. Brady
Roscoe O. Brady Beth Israel Deaconess Medical Center
Derralynn Hughes
Derralynn Hughes Royal Free London NHS Foundation Trust
Daniel G. Bichet
Daniel G. Bichet University of Montreal
William R. Wilcox
William R. Wilcox Emory University
Roberto Giugliani
Roberto Giugliani Federal University of Rio Grande do Sul
Ellen Sidransky
Ellen Sidransky National Institutes of Health
David G. Warnock
David G. Warnock University of Alabama at Birmingham
Gioacchino Tedeschi
Gioacchino Tedeschi University of Campania "Luigi Vanvitelli"
Teodoro Bottiglieri
Teodoro Bottiglieri Baylor University

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