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Bioproduction of Human Enzymes in Transgenic Tobaccoa.
- Published in:
- Annals of the New York Academy of Sciences, 1996, v. 792, n. 1, p. 62, doi. 10.1111/j.1749-6632.1996.tb32492.x
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- Publication type:
- Article
AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease.
- Published in:
- Journal of Gene Medicine, 2006, v. 8, n. 6, p. 719, doi. 10.1002/jgm.901
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- Publication type:
- Article
Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry.
- Published in:
- American Journal of Hematology, 2015, v. 90, p. S12, doi. 10.1002/ajh.24063
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- Publication type:
- Article
Afterword.
- Published in:
- 2015
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- Publication type:
- Other
Position statement: National Gaucher Foundation Medical Advisory Board, January 7, 2014.
- Published in:
- American Journal of Hematology, 2014, v. 89, n. 5, p. 457, doi. 10.1002/ajh.23687
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- Publication type:
- Article
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.
- Published in:
- American Journal of Hematology, 2013, v. 88, n. 3, p. 172, doi. 10.1002/ajh.23383
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- Publication type:
- Article
Gaucher disease: Resetting the clinical and scientific agenda.
- Published in:
- American Journal of Hematology, 2009, v. 84, n. 4, p. 205, doi. 10.1002/ajh.21384
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- Publication type:
- Article
Guidance on the use of miglustat for treating patients with type 1 Gaucher disease.
- Published in:
- American Journal of Hematology, 2005, v. 80, n. 3, p. 223, doi. 10.1002/ajh.20504
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- Publication type:
- Article
Time Series Expression Analyses Using RNA-seq: A Statistical Approach.
- Published in:
- 2013
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- Publication type:
- Journal Article
Time Series Expression Analyses Using RNA-seq: A Statistical Approach.
- Published in:
- BioMed Research International, 2013, v. 2013, p. 1, doi. 10.1155/2013/203681
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- Publication type:
- Article
Substrate Reduction Therapy Reverses Mitochondrial, mTOR, and Autophagy Alterations in a Cell Model of Gaucher Disease.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 9, p. 2286, doi. 10.3390/cells10092286
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- Publication type:
- Article
Global gene expression profile progression in Gaucher disease mouse models.
- Published in:
- BMC Genomics, 2011, v. 12, n. 1, p. 1, doi. 10.1186/1471-2164-12-20
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- Publication type:
- Article
Saposin C: Neuronal Effect and CNS Delivery by Liposomes.
- Published in:
- Annals of the New York Academy of Sciences, 2005, v. 1053, n. 1, p. 237, doi. 10.1196/annals.1344.021
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- Publication type:
- Article
The role of UDP-Glc:glycoprotein glucosyltransferase 1 in the maturation of an obligate substrate prosaposin.
- Published in:
- Journal of Cell Biology, 2010, v. 189, n. 5, p. 829, doi. 10.1083/jcb.200912105
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- Publication type:
- Article
Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 15, p. 3943, doi. 10.1093/hmg/ddu105
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- Publication type:
- Article
Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 12, p. 2435, doi. 10.1093/hmg/ddt096
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- Publication type:
- Article
Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 6, p. 1088, doi. 10.1093/hmg/ddp580
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- Publication type:
- Article
Specific saposin C deficiency: CNS impairment and acid β-glucosidase effects in the mouse.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 4, p. 634, doi. 10.1093/hmg/ddp531
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- Publication type:
- Article
Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 15, p. 2345, doi. 10.1093/hmg/ddn135
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- Publication type:
- Article
Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and α-hydroxy ceramide accumulation, and altered prosaposin trafficking.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 8, p. 957, doi. 10.1093/hmg/ddm040
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- Publication type:
- Article
Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy.
- Published in:
- 2017
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- Publication type:
- journal article
C-X-C Motif Chemokine Ligand 9 and Its CXCR3 Receptor Are the Salt and Pepper for T Cells Trafficking in a Mouse Model of Gaucher Disease.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 12712, doi. 10.3390/ijms222312712
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- Publication type:
- Article
An in situ study of beta-glucosidase activity in normal and gaucher fibroblasts with fluorogenic probes.
- Published in:
- Cell Biochemistry & Function, 1993, v. 11, n. 3, p. 167, doi. 10.1002/cbf.290110304
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- Publication type:
- Article
Blue nasal secretions: A presentation of Gaucher's disease and concurrent hemosiderosis.
- Published in:
- American Journal of Hematology, 1993, v. 44, n. 3, p. 219, doi. 10.1002/ajh.2830440326
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- Publication type:
- Article
Tartrate-resistant acid phosphatase staining of monocytes in gaucher disease.
- Published in:
- American Journal of Hematology, 1985, v. 19, n. 3, p. 237, doi. 10.1002/ajh.2830190305
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- Publication type:
- Article
Hexosaminidase a activity and amyotrophic lateral sclerosis.
- Published in:
- Muscle & Nerve, 1988, v. 11, n. 3, p. 227, doi. 10.1002/mus.880110307
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- Publication type:
- Article
Identification and Sequencing of a Putative Variant of Proopiomelanocortin in Human Epidermis and Epidermal Cells in Culture.
- Published in:
- Journal of Investigative Dermatology, 1998, v. 111, n. 3, p. 485, doi. 10.1046/j.1523-1747.1998.00315.x
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- Publication type:
- Article
Role of saposin C and D in auditory and vestibular function.
- Published in:
- 2016
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- Publication type:
- journal article
Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants.
- Published in:
- Glycobiology, 2012, v. 22, n. 4, p. 492, doi. 10.1093/glycob/cwr157
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- Publication type:
- Article
Ectopic expression of α1,6 fucosyltransferase in mice causes steatosis in the liver and kidney accompanied by a modification of lysosomal acid lipase.
- Published in:
- Glycobiology, 2001, v. 11, n. 2, p. 165, doi. 10.1093/glycob/11.2.165
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- Publication type:
- Article
910. AAV8-Mediated Expression of Glucocerebrosidase Ameliorates the Storage Pathology in the D409V/null Gaucher Mouse
- Published in:
- 2005
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- Publication type:
- Abstract
Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy.
- Published in:
- Annals of Internal Medicine, 2003, v. 138, n. 4, p. 338, doi. 10.7326/0003-4819-138-4-200302180-00014
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- Publication type:
- Article
Spiral Ganglion Degeneration and Hearing Loss as a Consequence of Satellite Cell Death in Saposin B-Deficient Mice.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 7, p. 3263, doi. 10.1523/JNEUROSCI.3920-13.2015
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- Publication type:
- Article
Gaucher disease: considerations in prenatal diagnosis.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 1, p. 60, doi. 10.1002/(SICI)1097-0223(200001)20:1<60::AID-PD763>3.0.CO;2-R
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- Publication type:
- Article
Ubiquitous Transgene Expression of the Glucosylceramide-Synthesizing Enzyme Accelerates Glucosylceramide Accumulation and Storage Cells in a Gaucher Disease Mouse Model.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0116023
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- Publication type:
- Article
Gaucher Disease: Transcriptome Analyses Using Microarray or mRNA Sequencing in a <i>Gba1</i> Mutant Mouse Model Treated with Velaglucerase alfa or Imiglucerase.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0074912
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- Publication type:
- Article
Substrate Compositional Variation with Tissue/Region and <i>Gba1</i> Mutations in Mouse Models–Implications for Gaucher Disease.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0057560
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- Publication type:
- Article
Isofagomine In Vivo Effects in a Neuronopathic Gaucher Disease Mouse.
- Published in:
- PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0019037
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- Publication type:
- Article
Comparative Therapeutic Effects of Velaglucerase Alfa and Imiglucerase in a Gaucher Disease Mouse Model.
- Published in:
- PLoS ONE, 2010, v. 5, n. 5, p. 1, doi. 10.1371/journal.pone.0010750
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- Publication type:
- Article
In Vivo and Ex Vivo Evaluation of L-Type Calcium Channel Blockers on Acid β-Glucosidase in Gaucher Disease Mouse Models.
- Published in:
- PLoS ONE, 2009, v. 4, n. 10, p. 1, doi. 10.1371/journal.pone.0007320
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- Publication type:
- Article
The Development of an Inquiry-Based Laboratory Module Exploring the Pathophysiology of Diabetes.
- Published in:
- Bioscene, 2018, v. 44, n. 2, p. 3
- By:
- Publication type:
- Article
Using Castration Surgery in Male Rats to Demonstrate the Physiological Effects of Testosterone on Seminal Vesicle Anatomy in an Undergraduate Laboratory Setting.
- Published in:
- Bioscene, 2013, v. 39, n. 2, p. 25
- By:
- Publication type:
- Article
Resident Wellness During the COVID-19 Pandemic: A Nationwide Survey of Orthopaedic Residents.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Keloid and Hypertrophic Scar Formation, Prevention, and Management: Standard Review of Abnormal Scarring in Orthopaedic Surgery.
- Published in:
- 2020
- By:
- Publication type:
- journal article
HIV in Orthopaedic Surgery.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Venous Thrombosis in Athletes.
- Published in:
- Journal of the American Academy of Orthopaedic Surgeons, 2013, v. 21, n. 2, p. 108, doi. 10.5435/JAAOS-21-02-108
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- Publication type:
- Article
Bone Graft and Bone Graft Substitutes in Spine Surgery: Current Concepts and Controversies.
- Published in:
- Journal of the American Academy of Orthopaedic Surgeons, 2013, v. 21, n. 1, p. 51, doi. 10.5435/JAAOS-21-01-51
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- Publication type:
- Article
Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.
- Published in:
- European Journal of Pediatrics, 2004, v. 163, n. 2, p. 58
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- Publication type:
- Article
Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0162367
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- Publication type:
- Article