Inscrição na biblioteca: Guest
Critical Reviews™ in Oncogenesis

Publicou 4 edições por ano

ISSN Imprimir: 0893-9675

ISSN On-line: 2162-6448

SJR: 0.395 SNIP: 0.322 CiteScore™:: 2.5 H-Index: 54

Indexed in

Gaucher Disease: A Comprehensive Review

Volume 18, Edição 3, 2013, pp. 163-175
DOI: 10.1615/CritRevOncog.2013006060
Get accessGet access

RESUMO

Gaucher disease (GD) is an inherited error of metabolism due to a deficiency of glucocerebrosidase. This leads to excessive storage of glucocerebroside in the liver, spleen, bone, and bone marrow. Patients develop anemia, thrombocytopenia, hepatosplenomegaly, bone infarcts, aseptic necrosis of bone, and osteoporosis. There are three types of GD; types 2 and 3 have neurological involvement. With the advent of enzyme replacement therapy and substrate reduction therapy, the natural history of the disease has been has significantly changed, with a marked decrease in morbidity, especially for type 1 patients. This article reviews a broad spectrum of information regarding Gaucher disease, from the history of the disease to newer therapies still in the investigational stage.

CITADO POR
  1. van Smeden J., Janssens M., Gooris G.S., Bouwstra J.A., The important role of stratum corneum lipids for the cutaneous barrier function, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 1841, 3, 2014. Crossref

  2. Pastores Gregory M, Hughes Derralynn, Eliglustat tartrate: an oral therapeutic option for Gaucher disease type 1, Clinical Investigation, 4, 1, 2014. Crossref

  3. Gonzalez Ashley, Valeiras Mark, Sidransky Ellen, Tayebi Nahid, Lysosomal integral membrane protein-2: A new player in lysosome-related pathology, Molecular Genetics and Metabolism, 111, 2, 2014. Crossref

  4. Amato Dominick, Wang Chen, Resolution of thrombocytopenia with JAK2 mutation in a patient with Gaucher disease, Blood, 122, 26, 2013. Crossref

  5. Wang Ya-Juan, Di Xiao-Jing, Mu Ting-Wei, Using pharmacological chaperones to restore proteostasis, Pharmacological Research, 83, 2014. Crossref

  6. Weiss Karin, Gonzalez Ashley N., Lopez Grisel, Pedoeim Leah, Groden Catherine, Sidransky Ellen, The clinical management of type 2 Gaucher disease, Molecular Genetics and Metabolism, 114, 2, 2015. Crossref

  7. Di Rocco Maja, Andria Generoso, Deodato Federica, Giona Fiorina, Micalizzi Concetta, Pession Andrea, Early diagnosis of Gaucher disease in pediatric patients: Proposal for a diagnostic algorithm, Pediatric Blood & Cancer, 61, 11, 2014. Crossref

  8. Puschmann Andreas, Wszolek Zbigniew K., Genotype–Phenotype Correlations in Parkinson Disease, in Movement Disorders, 2015. Crossref

  9. Johnson Britt A., Dajnoki Angela, Bodamer Olaf, Diagnosis of Lysosomal Storage Disorders: Gaucher Disease, Current Protocols in Human Genetics, 82, 1, 2014. Crossref

  10. Marcucci Gemma, Zimran Ari, Bembi Bruno, Kanis John, Reginster Jean-Yves, Rizzoli Renè, Cooper Cyrus, Brandi Maria Luisa, Gaucher Disease and Bone Manifestations, Calcified Tissue International, 95, 6, 2014. Crossref

  11. Rosenbloom Barry E, Weinreb Neal J, Bone disease in patients with Gaucher disease, Expert Review of Endocrinology & Metabolism, 9, 2, 2014. Crossref

  12. Rodríguez-Lavado Julio, de la Mata Mario, Jiménez-Blanco José L., García-Moreno M. Isabel, Benito Juan M., Díaz-Quintana Antonio, Sánchez-Alcázar José A., Higaki Katsumi, Nanba Eiji, Ohno Kousaku, Suzuki Yoshiyuki, Ortiz Mellet Carmen, García Fernández José M., Targeted delivery of pharmacological chaperones for Gaucher disease to macrophages by a mannosylated cyclodextrin carrier, Org. Biomol. Chem., 12, 14, 2014. Crossref

  13. Hollak Carla E.M., Weinreb Neal J., The attenuated/late onset lysosomal storage disorders: Therapeutic goals and indications for enzyme replacement treatment in Gaucher and Fabry disease, Best Practice & Research Clinical Endocrinology & Metabolism, 29, 2, 2015. Crossref

  14. Brown W. Virgil, Desnick Robert J., Grabowski Gregory A., JCL Roundtable: Enzyme replacement therapy for lipid storage disorders, Journal of Clinical Lipidology, 8, 5, 2014. Crossref

  15. Doneda Divair, Lopes André L., Teixeira Bruno C., Mittelstadt Suzana D., Moulin Cileide C., Schwartz Ida V.D., Ghrelin, leptin and adiponectin levels in Gaucher disease type I patients on enzyme replacement therapy, Clinical Nutrition, 34, 4, 2015. Crossref

  16. Telias Michael, Ben-Yosef Dalit, Modeling Neurodevelopmental Disorders Using Human Pluripotent Stem Cells, Stem Cell Reviews and Reports, 10, 4, 2014. Crossref

  17. Dzamko N., Geczy C.L, Halliday G.M, Inflammation is genetically implicated in Parkinson’s disease, Neuroscience, 302, 2015. Crossref

  18. Götze Thomas, Blessing Holger, Grillhösl Christian, Gerner Patrick, Hoerning André, Neonatal Cholestasis – Differential Diagnoses, Current Diagnostic Procedures, and Treatment, Frontiers in Pediatrics, 3, 2015. Crossref

  19. Tavares Kaio Cesar Simiano, Dias Ana Christina de Oliveira, Lazzarotto Cícera Regina, Gaudencio Neto Saul, de Sá Carneiro Igor, Ongaratto Felipe Ledur, Pinto Antônio Frederico Michel, de Aguiar Luís Henrique, Calderón Carlos Enrique Mendez, Toledo Jorge Roberto, Castro Fidel Ovidio, Santos Diogenes Santiago, Chies Jocelei Maria, Bertolini Marcelo, Bertolini Luciana Relly, Transient Expression of Functional Glucocerebrosidase for Treatment of Gaucher’s Disease in the Goat Mammary Gland, Molecular Biotechnology, 58, 1, 2016. Crossref

  20. Motta Irene, Filocamo Mirella, Poggiali Erika, Stroppiano Marina, Dragani Alfredo, Consonni Dario, Barcellini Wilma, Gaidano Gianluca, Facchini Luca, Specchia Giorgina, Cappellini Maria Domenica, A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia, European Journal of Haematology, 96, 4, 2016. Crossref

  21. Weinreb Neal J., Finegold David N., Feingold Eleanor, Zeng Zhen, Rosenbloom Barry E., Shankar Suma P., Amato Dominick, Evaluation of disease burden and response to treatment in adults with type 1 gaucher disease using a validated disease severity scoring system (DS3), Orphanet Journal of Rare Diseases, 10, 1, 2015. Crossref

  22. Kim Jenny, Sidransky Ellen, Lopez Grisel, Understanding and managing parkinsonism in patients with glucocerebrosidase mutations, Expert Opinion on Orphan Drugs, 3, 5, 2015. Crossref

  23. Shaaltiel Yoseph, Gingis-Velitski Svetlana, Tzaban Salit, Fiks Nadia, Tekoah Yoram, Aviezer David, Plant-based oral delivery of β-glucocerebrosidase as an enzyme replacement therapy for Gaucher's disease, Plant Biotechnology Journal, 13, 8, 2015. Crossref

  24. Utz Jeanine, Whitley Chester B., van Giersbergen Paul L.M., Kolb Stefan A., Comorbidities and pharmacotherapies in patients with Gaucher disease type 1: The potential for drug–drug interactions, Molecular Genetics and Metabolism, 117, 2, 2016. Crossref

  25. Lee Mee, Kim Hyang, Singh Digar, Yeo Soo, Baek Seong, Park Yoo, Lee Choong, Metabolite Profiling Reveals the Effect of Dietary Rubus coreanus Vinegar on Ovariectomy-Induced Osteoporosis in a Rat Model, Molecules, 21, 2, 2016. Crossref

  26. Nalysnyk Luba, Rotella Philip, Simeone Jason C., Hamed Alaa, Weinreb Neal, Gaucher disease epidemiology and natural history: a comprehensive review of the literature, Hematology, 22, 2, 2017. Crossref

  27. Zimmermann Arthur, Hepatobiliary Pseudotumors Consisting of Nonneoplastic Hematopoietic Cells and Cells of the Macrophage Lineage, in Tumors and Tumor-Like Lesions of the Hepatobiliary Tract, 2017. Crossref

  28. Zimmermann Arthur, Hepatobiliary Pseudotumors Consisting of Nonneoplastic Hematopoietic Cells and Cells of the Macrophage Lineage, in Tumors and Tumor-Like Lesions of the Hepatobiliary Tract, 2016. Crossref

  29. Shawky Rabah M., Elsayed Solaf M., Treatment options for patients with Gaucher disease, Egyptian Journal of Medical Human Genetics, 17, 3, 2016. Crossref

  30. Mello Ricardo Andrade Fernandes de, Mello Melissa Bozzi Nonato, Pessanha Laís Bastos, Magnetic resonance imaging and BMB score in the evaluation of bone involvement in Gaucher’s disease patients, Radiologia Brasileira, 48, 4, 2015. Crossref

  31. Goetsch Allison L., Kimelman Dana, Woodruff Teresa K., Inborn Errors of Metabolism, in Fertility Preservation and Restoration for Patients with Complex Medical Conditions, 2017. Crossref

  32. Ganz Michael L., Stern Sean, Ward Alex, Nalysnyk Luba, Selzer Martin, Hamed Alaa, Weinreb Neal, A new framework for evaluating the health impacts of treatment for Gaucher disease type 1, Orphanet Journal of Rare Diseases, 12, 1, 2017. Crossref

  33. Roghi Alberto, Poggiali Erika, Cassinerio Elena, Pedrotti Patrizia, Giuditta Marianna, Milazzo Angela, Quattrocchi Giuseppina, Cappellini Maria Domenica, The role of cardiac magnetic resonance in assessing the cardiac involvement in Gaucher type 1 patients, Journal of Cardiovascular Medicine, 18, 4, 2017. Crossref

  34. Hasiński Piotr, Bik-Multanowski Mirosław, Koba-Wszędobył Magdalena, Walczak Mieczysław, Bubnowski Marek, Milewska-Kranc Agnieszka, Smyk Andrzej, Machaczka Maciej, Choroba Gauchera – zalecenia dotyczące rozpoznawania, leczenia i monitorowania, Acta Haematologica Polonica, 48, 4, 2017. Crossref

  35. Abou Daher Alaa, El Jalkh Tatiana, Eid Assaad, Fornoni Alessia, Marples Brian, Zeidan Youssef, Translational Aspects of Sphingolipid Metabolism in Renal Disorders, International Journal of Molecular Sciences, 18, 12, 2017. Crossref

  36. Davis Marie Y., Trinh Kien, Thomas Ruth E., Yu Selina, Germanos Alexandre A., Whitley Brittany N., Sardi Sergio Pablo, Montine Thomas J., Pallanck Leo J., Lu Bingwei, Glucocerebrosidase Deficiency in Drosophila Results in α-Synuclein-Independent Protein Aggregation and Neurodegeneration, PLOS Genetics, 12, 3, 2016. Crossref

  37. Cappellini Maria-Domenica, Cassinerio Elena, Motta Irene, Morello William, Villarubia Jesús, Finding and Treating Gaucher Disease Type 1 – The Role of the Haematologist, European Oncology & Haematology, 14, 1, 2018. Crossref

  38. Yang Meng, Fever, pulmonary interstitial fibrosis, and hepatomegaly in a 15-year-old boy with Gaucher disease: a case report, Journal of Medical Case Reports, 12, 1, 2018. Crossref

  39. Russell Steven A., Sholzberg Michelle, Mangel Joy, Keeney Michael, Hedley Ben, Bode Margo, Gob Alan, Lam Selay, Phua Chai, Hsia Cyrus C., Gaucher disease screening at a general adult hematology tertiary care centre: A prospective study, International Journal of Laboratory Hematology, 41, 3, 2019. Crossref

  40. Davidson Brad A., Hassan Shahzeb, Garcia Eric Joshua, Tayebi Nahid, Sidransky Ellen, Exploring genetic modifiers of Gaucher disease: The next horizon, Human Mutation, 39, 12, 2018. Crossref

  41. Nascimbeni Fabio, Cassinerio Elena, Dalla Salda Annalisa, Motta Irene, Bursi Serena, Donatiello Salvatore, Spina Vincenzo, Cappellini Maria Domenica, Carubbi Francesca, Prevalence and predictors of liver fibrosis evaluated by vibration controlled transient elastography in type 1 Gaucher disease, Molecular Genetics and Metabolism, 125, 1-2, 2018. Crossref

  42. Kaissi Ali Al, Chehida Farid Ben, Grill Franz, Ganger Rudolf, Kircher Susanne Gerit, Turning the backbone into an ankylosed concrete-like structure, Medicine, 97, 15, 2018. Crossref

  43. Thomas Ruth E., Vincow Evelyn S., Merrihew Gennifer E., MacCoss Michael J., Davis Marie Y., Pallanck Leo J., Bonini Nancy, Glucocerebrosidase deficiency promotes protein aggregation through dysregulation of extracellular vesicles, PLOS Genetics, 14, 9, 2018. Crossref

  44. 孙 维胜, Splenectomy for Children with Gaucher’s Disease, Advances in Clinical Medicine, 08, 07, 2018. Crossref

  45. Zamoner Luís O. B., Aragão-Leoneti Valquiria, Carvalho Ivone, Iminosugars: Effects of Stereochemistry, Ring Size, and N-Substituents on Glucosidase Activities, Pharmaceuticals, 12, 3, 2019. Crossref

  46. Tseng Szu-Yin, Niu Dau-Ming, Chu Tzu-Hung, Yeh Yi-Chen, Huang Man-Hsu, Yang Tsui-Feng, Liao Hsuan-Chieh, Chiang Chuan-Chi, Ho Hui-Chen, Soong Wen-Jue, Yang Chia-Feng, Very rare condition of multiple Gaucheroma: A case report and review of the literature, Molecular Genetics and Metabolism Reports, 20, 2019. Crossref

  47. Kartha Reena V., Joers James, Terluk Marcia R., Travis Abigail, Rudser Kyle, Tuite Paul J., Weinreb Neal J., Jarnes Jeanine R., Cloyd James C., Öz Gülin, Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy, Journal of Inherited Metabolic Disease, 43, 3, 2020. Crossref

  48. RAJASIMHA HARSHA KARUR, SHIROL PRASANNAKUMAR BASAYYA, RAMAMOORTHY PREVEEN, HEGDE MADHURI, BARDE SANGEETA, CHANDRU VIJAY, RAVINANDAN M. E., RAMCHANDRAN RAMANI, HALDAR KASTURI, LIN JIMMY C., BABAR IMRAN A., GIRISHA KATTA M., SRINIVASAN SUDHA, NAVANEETHAM DURAISWAMY, BATTU RAJANI, DEVARAKONDA RAJASHREE, KINI USHA, VIJAYACHANDRA KINNIMULKI, VERMA ISHWAR C., Organization for rare diseases India (ORDI) – addressing the challenges and opportunities for the Indian rare diseases' community, Genetics Research, 96, 2014. Crossref

  49. Cappellini Maria Domenica, Gaucher Disease for the Haematologist, European Oncology & Haematology, 15, 1, 2019. Crossref

  50. Sperb-Ludwig Fernanda, Heineck Bianca Lúcia, Michelin-Tirelli Kristiane, Alegra Taciane, Schwartz Ida Vanessa Doederlein, Chitotriosidase on treatment-naïve patients with Gaucher disease: A genotype vs phenotype study, Clinica Chimica Acta, 492, 2019. Crossref

  51. Zhan Qiping, Dai Yufeng, Wang Fei, Mai Xiaoyuan, Fu Meng, Wang Peng, Wang Jingfeng, Metabonomic analysis in investigating the anti-osteoporotic effect of sialoglycoprotein isolated from eggs of carassius auratus on ovariectomized mice, Journal of Functional Foods, 61, 2019. Crossref

  52. Nagree Murtaza S., Scalia Simone, McKillop William M., Medin Jeffrey A., An update on gene therapy for lysosomal storage disorders, Expert Opinion on Biological Therapy, 19, 7, 2019. Crossref

  53. Degnan Andrew J., Ho-Fung Victor M., Ahrens-Nicklas Rebecca C., Barrera Christian A., Serai Suraj D., Wang Dah-Jyuu, Ficicioglu Can, Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement, Insights into Imaging, 10, 1, 2019. Crossref

  54. Tseng Szu-Yin, Niu Dau-Ming, Chu Tzu-Hung, Yeh Yi-Chen, Huang Man-Hsu, Yang Tsui-Feng, Liao Hsuan-Chieh, Chiang Chuan-Chi, Ho Hui-Chen, Soong Wen-Jue, Yang Chia-Feng, WITHDRAWN: Very rare condition of multiple Gaucheroma: A case report and review of the literature, Molecular Genetics and Metabolism Reports, 20, 2019. Crossref

  55. Puppala Umamaheshwar, Srinivas Koduri S V, Venkateshwara Reddy K, Kaliyaperumal Muralidharan, Doddipalla Raju, Jogi Bhaskar Rao, Isolation and Characterization of Novel Degradation Products of Eliglustat Tartrate Using 2D-NMR and HRMS: Development and Validation of Stability Indicating RP-UPLC Method for Quantification of Assay and Characterized Impurities, Analytical Chemistry Letters, 10, 1, 2020. Crossref

  56. Du Jianxun, Chu Weiming, Zhang Mengmeng, Ma Chunying, Feng Wenhua, A novel method for preparing Eligulstat through chiral resolution, Bioorganic & Medicinal Chemistry Letters, 30, 16, 2020. Crossref

  57. Jaffe Dena H, Flaks-Manov Natalie, Benis Arriel, Gabay Hagit, DiBonaventura Marco, Rosenbaum Hanna, Joseph Alain, Bachrach Asaf, Leventer-Roberts Maya, Population-based cohort of 500 patients with Gaucher disease in Israel, BMJ Open, 9, 1, 2019. Crossref

  58. Önal Gizem, Gümüş Ersin, Demir Hülya, Yüce Aysel, Dökmeci (Emre) Serap, Molecular genetic analysis of Turkish Gaucher's disease patients reveals three novel variants in Glucocerebrosidase (GBA) gene, Meta Gene, 25, 2020. Crossref

  59. Beasley James, McCaw Patricia, Zhang Haoyue, Young Sarah P., Stiles Ashlee R., Combined analysis of plasma or serum glucosylsphingosine and globotriaosylsphingosine by UPLC-MS/MS, Clinica Chimica Acta, 511, 2020. Crossref

  60. Laine Roger A, The case for re-examining glycosylation inhibitors, mimetics, primers and glycosylation decoys as antivirals and anti-inflammatories in COVID19, Glycobiology, 30, 10, 2020. Crossref

  61. Movsisyan G. B., Surkov A. N., Namazova-Baranova L. S., Savostyanov K. V., Features of the diagnosis of Gaucher disease in children in the Russian Federation, Russian Journal of Pediatric Hematology and Oncology, 7, 2, 2020. Crossref

  62. Kim Yoo-Mi, Choi Jin-Ho, Kim Gu-Hwan, Sohn Young Bae, Ko Jung Min, Lee Beom Hee, Cheon Chong Kun, Lim Han Hyuk, Heo Sun-Hee, Yoo Han-Wook, The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects, Orphanet Journal of Rare Diseases, 15, 1, 2020. Crossref

  63. Stadlbauer-Köllner Vanessa, Aigner Elmar, Fickert Peter, Peck-Radosavljevic Markus, Datz Christian, Gschwantler Michael, Hametner-Schreil Stephanie, Hofer Harald, Maieron Andreas, Reiberger Thomas, Stättermayer Albert Friedrich, Stulnig Thomas, Zoller Heinz, Empfehlungen zur Abklärung der Hepatosplenomegalie bei Erwachsenen unter besonderer Berücksichtigung von lysosomalen Speichererkrankungen, Journal für Gastroenterologische und Hepatologische Erkrankungen, 19, 2, 2021. Crossref

  64. Farhadi Shaheen A., Bracho-Sanchez Evelyn, Freeman Sabrina L., Keselowsky Benjamin G., Hudalla Gregory A., Enzymes as Immunotherapeutics, Bioconjugate Chemistry, 29, 3, 2018. Crossref

  65. Clarke Jennifer, Kayatekin Can, Viel Catherine, Shihabuddin Lamya, Sardi Sergio Pablo, Murine Models of Lysosomal Storage Diseases Exhibit Differences in Brain Protein Aggregation and Neuroinflammation, Biomedicines, 9, 5, 2021. Crossref

  66. Qi Wenduo, Davidson Brad A., Nguyen Matthew, Lindstrom Taylor, Grey Richard J., Burnett Robert, Aflaki Elma, Sidransky Ellen, Westbroek Wendy, Validation of anti-glucocerebrosidase antibodies for western blot analysis on protein lysates of murine and human cells, Biochemical Journal, 476, 2, 2019. Crossref

  67. Kang Lulu, Zhan Xia, Gu Xuefan, Zhang Huiwen, Successful newborn screening for Gaucher disease using fluorometric assay in China, Journal of Human Genetics, 62, 8, 2017. Crossref

  68. Andrade-Campos Marcio M., de Frutos Laura López, Cebolla Jorge J., Serrano-Gonzalo Irene, Medrano-Engay Blanca, Roca-Espiau Mercedes, Gomez-Barrera Beatriz, Pérez-Heredia Jorge, Iniguez David, Giraldo Pilar, Identification of risk features for complication in Gaucher’s disease patients: a machine learning analysis of the Spanish registry of Gaucher disease, Orphanet Journal of Rare Diseases, 15, 1, 2020. Crossref

  69. Xu Jiao, Bao Han, Qi Xinye, Wang Jiahui, Yin Hang, Shang Chunyang, Tan Rachel Leeyin, Wu Qunhong, Huang Weidong, Family caregivers of rare disease: A survey on health‐related quality of life in family caregivers for Gaucher disease patients in China, Molecular Genetics & Genomic Medicine, 9, 9, 2021. Crossref

  70. Wei Jianshe, Takamatsu Yoshiki, Wada Ryoko, Fujita Masayo, Ho Gilbert, Masliah Eliezer, Hashimoto Makoto, Therapeutic Potential of αS Evolvability for Neuropathic Gaucher Disease, Biomolecules, 11, 2, 2021. Crossref

  71. Vitantonio Guglielmi*, Mario Correale, Gioacchino Leandro, Gaucher’s disease and liver involvement: A review and our experience, Annals of Clinical Gastroenterology and Hepatology, 3, 1, 2019. Crossref

  72. Sgambato Judi A., Park Tea Soon, Miller Diana, Panicker Leelamma M., Sidransky Ellen, Lun Yu, Awad Ola, Bentzen Søren M., Zambidis Elias T., Feldman Ricardo A., Gaucher Disease-Induced Pluripotent Stem Cells Display Decreased Erythroid Potential and Aberrant Myelopoiesis, Stem Cells Translational Medicine, 4, 8, 2015. Crossref

  73. van Smeden Jeroen, Dijkhoff Irini M., Helder Richard W.J., Al-Khakany Hanin, Boer Daphne E.C., Schreuder Anne, Kallemeijn Wouter W., Absalah Samira, Overkleeft Herman S., Aerts Johannes M.F.G., Bouwstra Joke A., In situ visualization of glucocerebrosidase in human skin tissue: zymography versus activity-based probe labeling, Journal of Lipid Research, 58, 12, 2017. Crossref

  74. D’Amore Simona, Page Kathleen, Donald Aimée, Taiyari Khadijeh, Tom Brian, Deegan Patrick, Tan Chong Y., Poole Kenneth, Jones Simon A., Mehta Atul, Hughes Derralynn, Sharma Reena, Lachmann Robin H., Chakrapani Anupam, Geberhiwot Tarekegn, Santra Saikat, Banka Siddarth, Cox Timothy M., Cox T. M., Platt F. M., Banka S., Chakrapani A., Deegan P. B., Geberhiwot T., Hughes D. A., Jones S., Lachmann R. H., Santra S., Sharma R., Vellodi A., In-depth phenotyping for clinical stratification of Gaucher disease, Orphanet Journal of Rare Diseases, 16, 1, 2021. Crossref

  75. Lumbroso Alexandre, Berthonneau Clément, Beaudet Isabelle, Quintard Jean-Paul, Planchat Aurélien, García-Moreno M. Isabel, Ortiz Mellet Carmen, Le Grognec Erwan, A versatile stereocontrolled synthesis of 2-deoxyiminosugar C-glycosides and their evaluation as glycosidase inhibitors, Organic & Biomolecular Chemistry, 19, 5, 2021. Crossref

  76. Cheblokov A A, Rychkov G N, Dynamic characteristics of totally glycosylated human glucocerebrosidase carrying N370S substitution, Journal of Physics: Conference Series, 1410, 1, 2019. Crossref

  77. Serfecz Jacquelyn C., Saadin Afsoon, Santiago Clayton P., Zhang Yuji, Bentzen Søren M., Vogel Stefanie N., Feldman Ricardo A., C5a Activates a Pro-Inflammatory Gene Expression Profile in Human Gaucher iPSC-Derived Macrophages, International Journal of Molecular Sciences, 22, 18, 2021. Crossref

  78. Sharoar Md Golam, Palko Sarah, Ge Yingying, Saido Takaomi C., Yan Riqiang, Accumulation of saposin in dystrophic neurites is linked to impaired lysosomal functions in Alzheimer’s disease brains, Molecular Neurodegeneration, 16, 1, 2021. Crossref

  79. Kong Weijing, Lu Cheng, Ding Yingxue, Meng Yan, Update of treatment for Gaucher disease, European Journal of Pharmacology, 926, 2022. Crossref

  80. Drews Kelly, Calgi Michael P., Harrison William Casey, Drews Camille M., Costa-Pinheiro Pedro, Shaw Jeremy Joseph Porter, Jobe Kendra A., Nelson Elizabeth A., Han John D., Fox Todd, White Judith M., Kester Mark, Dutch Rebecca Ellis, Glucosylceramidase Maintains Influenza Virus Infection by Regulating Endocytosis, Journal of Virology, 93, 12, 2019. Crossref

  81. Rintz Estera, Higuchi Takashi, Kobayashi Hiroshi, Galileo Deni S., Wegrzyn Grzegorz, Tomatsu Shunji, Promoter considerations in the design of lentiviral vectors for use in treating lysosomal storage diseases, Molecular Therapy - Methods & Clinical Development, 24, 2022. Crossref

  82. Morgan Tara, Qayyum Aliya, Gore Richard M., Diffuse Liver Disease, in Textbook of Gastrointestinal Radiology, 2-Volume Set, 2015. Crossref

  83. Alam Md. Suhail, Getz Michelle, Haldar Kasturi, Chronic administration of an HDAC inhibitor treats both neurological and systemic Niemann-Pick type C disease in a mouse model, Science Translational Medicine, 8, 326, 2016. Crossref

  84. Shemesh Elad, Deroma Laura, Bembi Bruno, Deegan Patrick, Hollak Carla, Weinreb Neal J, Cox Timothy M, Enzyme replacement and substrate reduction therapy for Gaucher disease, Cochrane Database of Systematic Reviews, 2015, 4, 2015. Crossref

  85. Jaramillo Diego, Bedoya Maria A., Wang Dah-Jyuu, Pena Andres H., Delgado Jorge, Jaimes Camilo, Ho-Fung Victor, Kaplan Paige, Quantification of Bone Marrow Involvement in Treated Gaucher Disease With Proton MR Spectroscopy: Correlation With Bone Marrow MRI Scores and Clinical Status, American Journal of Roentgenology, 204, 6, 2015. Crossref

  86. Ruiz-Barrio Iñigo, Horta-Barba Andrea, Illán-Gala Ignacio, Kulisevsky Jaime, Pagonabarraga Javier, Genotype–Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities, Frontiers in Neurology, 13, 2022. Crossref

  87. El-Beshlawy Amal, Abdel-Azim Khaled, Abdel-Salam Amina, Gebril Nadine A., Selim Yasmeen M.M., Said Fadwa, Clinical Characteristics, Molecular Background, and Survival of Egyptian Patients With Gaucher Disease Over a 20-Year Follow-up, Journal of Pediatric Hematology/Oncology, 44, 5, 2022. Crossref

  88. Zizzo Carmela, Ruggeri Irene, Colomba Paolo, Argano Christiano, Francofonte Daniele, Zora Marcomaria, Marsana Emanuela Maria, Duro Giovanni, Corrao Salvatore, Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case, Biology, 11, 6, 2022. Crossref

  89. Zou Yujie, Pei Jingwen, Wang Yushu, Chen Qin, Sun Minli, Kang Lulu, Zhang Xuyuan, Zhang Liguo, Gao Xiang, Lin Zhaoyu, The Deficiency of SCARB2/LIMP-2 Impairs Metabolism via Disrupted mTORC1-Dependent Mitochondrial OXPHOS, International Journal of Molecular Sciences, 23, 15, 2022. Crossref

  90. Arévalo Nohela B., Lamaizon Cristian M., Cavieres Viviana A., Burgos Patricia V., Álvarez Alejandra R., Yañez María J., Zanlungo Silvana, Neuronopathic Gaucher disease: Beyond lysosomal dysfunction, Frontiers in Molecular Neuroscience, 15, 2022. Crossref

  91. Lopez-Ortiz Carlos, Edwards Mary, Natarajan Purushothaman, Pacheco-Valenciana Armando, Nimmakayala Padma, Adjeroh Donald A., Sirbu Cristian, Reddy Umesh K., Peppers in Diet: Genome-Wide Transcriptome and Metabolome Changes in Drosophila melanogaster, International Journal of Molecular Sciences, 23, 17, 2022. Crossref

  92. Vieira Sophia R. L., Schapira Anthony H. V., Glucocerebrosidase mutations and Parkinson disease, Journal of Neural Transmission, 129, 9, 2022. Crossref

  93. Meng Ying, Pople Christopher B., Huang Yuexi, Jones Ryan M., Ottoy Julie, Goubran Maged, Oliveira Lais M., Davidson Benjamin, Lawrence Liam S.P., Lau Angus Z., Bethune Allison, Maralani Pejman, Abrahao Agessandro, Hamani Clement, Hynynen Kullervo, Kalia Suneil K., Lipsman Nir, Kalia Lorraine V., Putaminal Recombinant Glucocerebrosidase Delivery with Magnetic Resonance – Guided Focused Ultrasound in Parkinson's Disease: A Phase I Study , Movement Disorders, 37, 10, 2022. Crossref

  94. Zakir Foziyah, Mohapatra Sradhanjali, Farooq Uzma, Mirza Mohd. Aamir, Iqbal Zeenat, Introduction to metabolic disorders, in Drug Delivery Systems for Metabolic Disorders, 2022. Crossref

  95. Gupta N. Vishal, Sastri K. Trideva, Sharadha M., Chakraborty Souvik, Balamuralidhara V., Alexander Amit, Advanced drug delivery systems involving lysosomal storage disorders for Schinder disease and other disorders, in Drug Delivery Systems for Metabolic Disorders, 2022. Crossref

  96. Ajmal Gufran, Mishra Brahmeshwar, Advanced drug delivery systems in the management of Gaucher disease, in Drug Delivery Systems for Metabolic Disorders, 2022. Crossref

  97. Chauhan Kanchan, Olivares‐Medina Cindy N., Villagrana‐Escareño Maria V., Juárez‐Moreno Karla, Cadena‐Nava Rubén D., Rodríguez‐Hernández Ana G., Vazquez‐Duhalt Rafael, Targeted Enzymatic VLP‐Nanoreactors with β‐Glucocerebrosidase Activity as Potential Enzyme Replacement Therapy for Gaucher's Disease, ChemMedChem, 17, 19, 2022. Crossref

  98. Gigis Ioannis, Pitsilos Charalampos, Samoladas Efthimios, Pavlopoulos Charalampos, Hytiroglou Prodromos, Ditsios Konstantinos, Papadopoulos Pericles, Gaucher Disease: An Unusual Cause of Knee Pain, JAAOS: Global Research and Reviews, 6, 10, 2022. Crossref

Portal Digital Begell Biblioteca digital da Begell eBooks Diários Referências e Anais Coleções de pesquisa Políticas de preços e assinaturas Begell House Contato Language English 中文 Русский Português German French Spain