Substrate Reduction Therapy Publications

Publications in Substrate Reduction Therapy

Explore the most influential research papers and scholarly works that have shaped Substrate Reduction Therapy. Use the concept filter below to focus on a specific sub-area of research.

Substrate Reduction Therapy

613

Publications

35.1K

Citations

Showing yearly statistics from 2000-2026.

Page 1

	Year	Citations
Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. Carla E. M. Hollak, Sonja van Weely, M. H. van Oers, Journal of Clinical Investigation Clinical SymptomsImmunologyGlycobiologyPathologyMarked Elevation	1994	899
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium Emyr Lloyd‐Evans, Anthony J. Morgan, Xingxuan He, Nature Medicine Mendelian DisorderDisease MechanismGenetic DisorderMedicinePathogenesis	2008	825
Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's disease Roscoe O. Brady, Julian N. Kanfer, David J. Shapiro Biochemical and Biophysical Research Communications Glucocerebrosides IiBiochemistryPathologySubstrate Reduction TherapyMetabolism	1965	802
The frequency of lysosomal storage diseases in The Netherlands Ben J. H. M. Poorthuis, Ron A. Wevers, Wim J. Kleijer, Human Genetics Lysosomal Storage DiseasesMendelian DisorderGenetic DisorderPathogenesisGenetic Epidemiology	1999	724
Phenotype, diagnosis, and treatment of Gaucher's disease Gregory A. Grabowski The Lancet Mendelian DisorderGenetic DisorderPathologySubstrate Reduction TherapyNeuropathology	2008	621
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry Neal J. Weinreb, Joel Charrow, Hans C. Andersson, The American Journal of Medicine Type 1Enzyme Replacement TherapySubstrate Reduction TherapyGaucher RegistryMedicine	2002	541
Neuropathology provides clues to the pathophysiology of Gaucher disease Kondi Wong, Ellen Sidransky, Ajay Verma, Molecular Genetics and Metabolism Neurodegenerative DiseasesGaucher DiseaseNeurological DisorderExperimental NeuropathologySubstrate Reduction Therapy	2004	451
Occurrence of Parkinson's syndrome in type 1 Gaucher disease Orit Neudorfer, Nir Giladi, Deborah Elstein, QJM Type 1Alzheimer's DiseaseGaucher DiseaseMendelian DisorderEnzyme Replacement Therapy	1996	393
Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Norman W. Barton, F S Furbish, Gary J. Murray, Proceedings of the National Academy of Sciences NutritionGlycobiologyImmunologyTherapeutic ResponseSubstrate Reduction Therapy	1990	370
Prevalence of lysosomal storage diseases in Portugal Rui Pinto, Carla Caseiro, Manuela Nascimento de Lemos, European Journal of Human Genetics Lysosomal Storage DiseasesMendelian DisorderGenetic DisorderPathogenesisLymphatic Filariasis	2003	347
Enzyme Loading of Erythrocytes Garret M. Ihler, Robert H. Glew, Frederick W. Schnure Proceedings of the National Academy of Sciences ImmunologyGlycobiologyBlood CellEnzyme LoadingSubstrate Reduction Therapy	1973	345
Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells Alisdair McNeill, Joana Magalhães, Chengguo Shen, Brain MitophagyGaucher DiseaseBiochemistrySingle Cell ImagingMedicine	2014	314

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