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Anca Zimmermann, Radu A Popp, Heidi Rossmann, Simona Bucerzan, Ioana Nascu, Daniel Leucuta, Matthias M Weber & Paula Grigorescu-Sido. (2018) Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1. Therapeutics and Clinical Risk Management 14, pages 2069-2080.
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Elena V Pavlova, Patrick B Deegan & Timothy M Cox. (2012) Biomarkers for osteonecrosis in Gaucher disease. Expert Opinion on Medical Diagnostics 6:1, pages 1-13.
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Deborah Elstein & Ari Zimran. (2009) Review of the safety and efficacy of imiglucerase treatment of Gaucher disease. Biologics: Targets and Therapy 3, pages 407-417.
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Carla EM Hollak, Maaike de Fost, Laura van Dussen, Stephan vom Dahl & Johannes MFG Aerts. (2009) Enzyme therapy for the treatment of type 1 Gaucher disease: clinical outcomes and dose – response relationships. Expert Opinion on Pharmacotherapy 10:16, pages 2641-2652.
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Joel Charrow. (2009) Enzyme replacement therapy for Gaucher disease. Expert Opinion on Biological Therapy 9:1, pages 121-131.
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Gregory M. Pastores, Pilar Giraldo, Patrick Chérin & Atul Mehta. (2009) Goal-oriented therapy with miglustat in Gaucher disease. Current Medical Research and Opinion 25:1, pages 23-37.
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Neal J Weinreb. (2008) Imiglucerase and its use for the treatment of Gaucher's disease. Expert Opinion on Pharmacotherapy 9:11, pages 1987-2000.
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Articles from other publishers (60)
Jan Philipp Köhler, David Schöler, Eva Thimm, Petra May, David Pullmann, Michael Kallenbach, Frederic Weis, Sophie Hummel, Regina-Sophie Allo, Hans Bock, Kathrin von Gradowski, Tom Lüdde & Stephan vom Dahl. (2023) Transition seltener Leberkrankheiten im Kindesalter – was kommt auf die Hepatologie zu?Transition of pediatric inborn errors of metabolism with liver manifestations into clinical hepatology—what lies ahead?. Die Gastroenterologie 18:5, pages 385-396.
Crossref
Crossref
Pilar Giraldo, Marcio Andrade‐Campos & Montserrat Morales. (2022) Recommendations on the follow‐up of patients with Gaucher disease in Spain: Results from a Delphi survey. JIMD Reports 64:1, pages 90-103.
Crossref
Crossref
Melike Ersoy, Duygu Yegül, Hamide Pişkinpaşa & Asuman Gedikbasi. (2022) The correlation between bone biomarkers, glucosylsphingosine levels, and molecular findings in Gaucher type 1 patients under enzyme therapy. Turkish Journal of Biochemistry 47:4, pages 457-463.
Crossref
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Eman Alnaghy, Ahmed Abdel Razek & Ebrahim Abdelhalim. (2022) Pre- and post-therapeutic evaluation of liver and spleen in type I and type III Gaucher’s disease using diffusion tensor imaging. Abdominal Radiology 47:10, pages 3485-3493.
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Crossref
Livia d'Ávila Paskulin, Rodrigo Tzovenos Starosta, Débora Bertholdo, Filippo Pinto Vairo, Leonardo Vedolin & Ida Vanessa Doederlein Schwartz. (2021) Bone marrow burden score is not useful as a follow-up parameter in stable patients with type 1 Gaucher disease after 5 years of treatment. Blood Cells, Molecules, and Diseases 90, pages 102591.
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Crossref
Ricardo Andrade Fernandes de Mello, Melissa Bosi Nonato Mello, Laís Bastos Pessanha & Ana Paula Alves Fonseca. (2021) Skeletal involvement in Gaucher disease: extent of bone disease, splenic volume, and quality of life. Radiologia Brasileira 54:2, pages 71-76.
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Yuji Oto, Takeshi Inoue, So Nagai, Shinichiro Tanaka, Hisashi Itabashi, Masahisa Shiraisihi, Akihisa Nitta, Nobuyuki Murakami, Hiroyuki Ida & Tomoyo Matsubara. (2021) Successful treatment of Gaucher disease type 1 by enzyme replacement therapy over a 10-year duration in a Japanese pediatric patient: A case report. Experimental and Therapeutic Medicine 21:3.
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Angela Sun, Irene J. Chang, Christina Lam & Gerard T. Berry. 2021. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics
563
682
.
Veroniki Komninaka, Pagona Flevari, Theodoros Marinakis, Georgios Karkaletsis, Lina Malakou & Konstantina Repa. (2020) Outcomes of pregnancies in patients with Gaucher Disease: The experience of a center of excellence on rare metabolic Disease-Gaucher Disease, in Greece. European Journal of Obstetrics & Gynecology and Reproductive Biology 254, pages 181-187.
Crossref
Crossref
Andrew J. Degnan, Victor M. Ho-Fung, Rebecca C. Ahrens-Nicklas, Christian A. Barrera, Suraj D. Serai, Dah-Jyuu Wang & Can Ficicioglu. (2019) Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement. Insights into Imaging 10:1.
Crossref
Crossref
Livia d'Avila Paskulin, Rodrigo Tzovenos Starosta, Vitória Schütt Zizemer, Suélen Basgalupp, Débora Bertholdo, Filippo Pinto e Vairo, Marina Siebert, Kristiane Michelin-Tirelli & Ida Vanessa Doederlein Schwartz. (2019) Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1. Molecular Genetics and Metabolism Reports 21, pages 100544.
Crossref
Crossref
A. A. Soloveva, K. A. Lukina & G. A. Yatsyk. (2019) Radiation Semiotics of Osteoarticular Involvement in Gaucher Disease Type I: a Modern View. Journal of radiology and nuclear medicine 100:1, pages 15-26.
Crossref
Crossref
C. Bondar, J. Mucci, A. Crivaro, M. Ormazabal, R. Ceci, B. Oliveri, D. González & P. Rozenfeld. (2017) In vitro osteoclastogenesis from Gaucher patients' cells correlates with bone mineral density but not with Chitotriosidase. Bone 103, pages 262-269.
Crossref
Crossref
Piotr Hasiński, Mirosław Bik-Multanowski, Magdalena Koba-Wszędobył, Mieczysław Walczak, Marek Bubnowski, Agnieszka Milewska-Kranc, Andrzej Smyk & Maciej Machaczka. (2017) Choroba Gauchera – zalecenia dotyczące rozpoznawania, leczenia i monitorowania. Acta Haematologica Polonica 48:4, pages 222-261.
Crossref
Crossref
Sabina Herrera, Jordi P?rez-L?pez, Marc Molt?-Abad, Roberto G?erri-Fern?ndez, Elena Cabezudo, Silvana Novelli, Jordi Esteve, Albert Hern?ndez, Inmaculada Roig, Xavier Solanich, Daniel Prieto-Alhambra, Xavier Nogu?s & Adolfo D?ez-P?rez. (2017) Assessment of Bone Health in Patients With Type 1 Gaucher Disease Using Impact Microindentation. Journal of Bone and Mineral Research 32:7, pages 1575-1581.
Crossref
Crossref
Jérôme Stirnemann, Nadia Belmatoug, Fabrice Camou, Christine Serratrice, Roseline Froissart, Catherine Caillaud, Thierry Levade, Leonardo Astudillo, Jacques Serratrice, Anaïs Brassier, Christian Rose, Thierry Billette de Villemeur & Marc Berger. (2017) A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. International Journal of Molecular Sciences 18:2, pages 441.
Crossref
Crossref
K. Laudemann, L. Moos, E. Mengel, A. Lollert, C. Hoffmann, M. Brixius-Huth, D. Wagner, C. Düber & G. Staatz. (2016) Evaluation of treatment response to enzyme replacement therapy with Velaglucerase alfa in patients with Gaucher disease using whole-body magnetic resonance imaging. Blood Cells, Molecules, and Diseases 57, pages 35-41.
Crossref
Crossref
Linda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, Delia Yubero, Maria Julieta González, Aida Ormazábal, Carme Fons, Cristina Jou, Cristina Sierra, Esperanza Castejon Ponce, Federico Ramos, Judith Armstrong, M. Mar O’Callaghan, Mercedes Casado, Raquel Montero, Silvia Meavilla-Olivas, Rafael Artuch, Ivo Barić, Franco Bartoloni, Cinzia Maria Bellettato, Fedele Bonifazi, Adriana Ceci, Ljerka Cvitanović-Šojat, Christine I Dali, Francesca D’Avanzo, Ksenija Fumic, Viviana Giannuzzi, Christina Lampe, Maurizio Scarpa & Ángels Garcia-Cazorla. (2015) Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders. Orphanet Journal of Rare Diseases 10:1.
Crossref
Crossref
Veroniki Komninaka, Dionysia Kolomodi, Dimitrios Christoulas, Theodoros Marinakis, Athanasios Papatheodorou, Konstantina Repa, Ersi Voskaridou, Konstantinos Revenas & Evangelos Terpos. (2015) Evaluation of bone involvement in patients with Gaucher disease: a semi-quantitative magnetic resonance imaging method (using ROI estimation of bone lesion) as an alternative method to semi-quantitative methods used so far. European Journal of Haematology 95:4, pages 342-351.
Crossref
Crossref
Joel Charrow & C. Ronald Scott. (2015) Long-term treatment outcomes in Gaucher disease. American Journal of Hematology 90, pages S19-S24.
Crossref
Crossref
Pramod K. Mistry, Nadia Belmatoug, Stephan vom Dahl & Roberto Giugliani. (2015) Understanding the natural history of Gaucher disease. American Journal of Hematology 90, pages S6-S11.
Crossref
Crossref
Gaetano Giuffrida, Maria Domenica Cappellini, Francesca Carubbi, Maja Di Rocco & Giovanni Iolascon. (2014) Management of Bone Disease in Gaucher Disease Type 1: Clinical Practice. Advances in Therapy 31:12, pages 1197-1212.
Crossref
Crossref
Gemma Marcucci, Ari Zimran, Bruno Bembi, John Kanis, Jean-Yves Reginster, Ren? Rizzoli, Cyrus Cooper & Maria Luisa Brandi. (2014) Gaucher Disease and Bone Manifestations. Calcified Tissue International 95:6, pages 477-494.
Crossref
Crossref
L. van Dussen, E. M. Akkerman, C. E. M. Hollak, A. J. Nederveen & M. Maas. (2014) Evaluation of an imaging biomarker, Dixon quantitative chemical shift imaging, in Gaucher disease: lessons learned. Journal of Inherited Metabolic Disease 37:6, pages 1003-1011.
Crossref
Crossref
Ravi S. Kamath, Elena Lukina, Nora Watman, Marta Dragosky, Gregory M. Pastores, Elsa Avila Arreguin, Hanna Rosenbaum, Ari Zimran, Rasha Aguzzi, Ana Cristina Puga, Andrea M. Norfleet, M. Judith Peterschmitt & Daniel I. Rosenthal. (2014) Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat. Skeletal Radiology 43:10, pages 1353-1360.
Crossref
Crossref
S. vom Dahl, U. Gebert & L. Poll. 2014. Angeborene Stoffwechselkrankheiten bei Erwachsenen. Angeborene Stoffwechselkrankheiten bei Erwachsenen
413
423
.
Gregory A GrabowskiLaura van Dussen, Mario Maas & Thomas N Hangartner. 2013. Gaucher Disease: Basic and Clinical Perspectives. Gaucher Disease: Basic and Clinical Perspectives
182
200
.
Derralynn Hughes. (2013) Rare but important haematological conditions: Gaucher disease. Medicine 41:4, pages 252-254.
Crossref
Crossref
L. van Dussen, A. Zimran, E.M. Akkerman, J.M.F.G. Aerts, M. Petakov, D. Elstein, H. Rosenbaum, D. Aviezer, E. Brill-Almon, R. Chertkoff, M. Maas & C.E.M. Hollak. (2013) Taliglucerase alfa leads to favorable bone marrow responses in patients with type I Gaucher disease. Blood Cells, Molecules, and Diseases 50:3, pages 206-211.
Crossref
Crossref
Ahmed Abdel Khalek Abdel Razek, Ahmed Abdalla, Abeer Fathy & Ahmed Megahed. (2012) Apparent diffusion coefficient of the vertebral bone marrow in children with Gaucher's disease type I and III. Skeletal Radiology 42:2, pages 283-287.
Crossref
Crossref
J.-F. Budzik, S. Aubert, C. Rose, A. Lambilliotte, D. Launay, N. Boutry & A. Cotten. 2013. Imagerie Musculosquelettique : Pathologies Générales. Imagerie Musculosquelettique : Pathologies Générales
685
712
.
Rose-Mary Boustany, Ibraheem Al-Shareef & Sariah El-Haddad. 2013. Emery and Rimoin's Principles and Practice of Medical Genetics. Emery and Rimoin's Principles and Practice of Medical Genetics
1
85
.
Robert Hemke & Mario Maas. 2012. Magnetic Resonance Imaging of the Bone Marrow. Magnetic Resonance Imaging of the Bone Marrow
177
192
.
Gaetano Giuffrida, Maria Rocca Cingari, Nunziatina Parrinello, Alessandra Romano, Anna Triolo, Magda Franceschino & Francesco Di Raimondo. (2012) Bone Turnover Markers in Patients with Type 1 Gaucher Disease. Hematology Reports 4:4, pages e21.
Crossref
Crossref
Ozlem Goker-Alpan. (2011) Therapeutic approaches to bone pathology in Gaucher disease: Past, present and future. Molecular Genetics and Metabolism 104:4, pages 438-447.
Crossref
Crossref
Robert Katz, Tom Booth, Rikin Hargunani, Peter Wylie & Brian Holloway. (2010) Radiological aspects of Gaucher disease. Skeletal Radiology 40:12, pages 1505-1513.
Crossref
Crossref
P. Mikosch. (2011) Gaucher disease and bone. Best Practice & Research Clinical Rheumatology 25:5, pages 665-681.
Crossref
Crossref
Eman M Sherif, Azza AG Tantawy, Amira AM Adly, Hossam A Kader & Eman AR Ismail. (2011) D-dimer assay in Egyptian patients with Gaucher disease: correlation with bone and lung involvement. Blood Coagulation & Fibrinolysis 22:3, pages 176-184.
Crossref
Crossref
Camila Simões Ferreira, Luis Roberto da Silva, Maria Bernadete J. Araújo, Roberta Kazan Tannús & William Luiz Aoqui. (2011) Doença de Gaucher: uma desordem subdiagnosticada. Revista Paulista de Pediatria 29:1, pages 122-125.
Crossref
Crossref
Ludger W. Poll, Marie-Louise Cox, Erhard Godehardt, Verena Steinhof & Stephan vom Dahl. (2011) Whole body MRI in type I Gaucher patients: Evaluation of skeletal involvement. Blood Cells, Molecules, and Diseases 46:1, pages 53-59.
Crossref
Crossref
Peter Mikosch & Derralynn Hughes. (2010) An overview on bone manifestations in Gaucher diseaseEine Übersicht zu Knochenmanifestationen bei Morbus Gaucher. Wiener Medizinische Wochenschrift 160:23-24, pages 609-624.
Crossref
Crossref
Elena LukinaNora WatmanElsa Avila ArreguinMarta DragoskyMarcelo IastrebnerHanna RosenbaumMici PhillipsGregory M. PastoresRavi S. Kamath, Daniel I. Rosenthal, Mathilde Kaper, Tejdip Singh, Ana Cristina Puga & M. Judith Peterschmitt. (2010) Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study. Blood 116:20, pages 4095-4098.
Crossref
Crossref
Stephan vom Dahl & Eugen Mengel. (2010) Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly. Best Practice & Research Clinical Gastroenterology 24:5, pages 619-628.
Crossref
Crossref
Wuh‐Liang Hwu, Yin‐Hsiu Chien & Ni‐Chung Lee. (2010) Newborn screening for neuropathic lysosomal storage disorders. Journal of Inherited Metabolic Disease 33:4, pages 381-386.
Crossref
Crossref
Paula Grigorescu-Sido, Cristina Drugan, Camelia AlKhzouz, Anca Zimmermann, Cristina Coldea, Carmen Denes, Mircea Dan Grigorescu, Victoria Cret & Simona Bucerzan. (2010) Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1. European Journal of Internal Medicine 21:2, pages 104-113.
Crossref
Crossref
Ari Zimran, Elizabeth Morris, Eugen Mengel, Paige Kaplan, Nadia Belmatoug, Derralynn A. Hughes, Vera Malinova, Rene Heitner, Elisa Sobreira, Mirando Mrsić, Sorina Granovsky-Grisaru, Dominick Amato & Stephan vom Dahl. (2009) The female Gaucher patient: The impact of enzyme replacement therapy around key reproductive events (menstruation, pregnancy and menopause). Blood Cells, Molecules, and Diseases 43:3, pages 264-288.
Crossref
Crossref
Ana Maria Martins, Eugenia Ribeiro Valadares, Gilda Porta, Janice Coelho, Jos? Semionato Filho, Mara Albonei Dudeque Pianovski, Marcelo Soares Kerstenetzky, Maria de F?tima Pombo Montoril, Paulo Cesar Aranda, Ricardo Flores Pires, Ronald Moura Vale Mota & Teresa Cristina Bortolheiro. (2009) Recommendations on Diagnosis, Treatment, and Monitoring for Gaucher Disease. The Journal of Pediatrics 155:4, pages S10-S18.
Crossref
Crossref
Chris J. Hendriksz. (2008) Inborn errors of metabolism for the diagnostic radiologist. Pediatric Radiology 39:3, pages 211-220.
Crossref
Crossref
Stephan vom Dahl, Pramod K. Mistry, Susanne Schuetz & Ludger Wilhelm Poll. (2009) Preventing the irreversible: Time to avascular necrosis, treatment intervention, and bone management guidelines in Gaucher disease. Clinical Therapeutics 31, pages S186-S187.
Crossref
Crossref
P. Mikosch, M. Reed, R. Baker, B. Holloway, L. Berger, A. B. Mehta & D. A. Hughes. (2008) Changes of Bone Metabolism in Seven Patients with Gaucher Disease Treated Consecutively with Imiglucerase and Miglustat. Calcified Tissue International 83:1, pages 43-54.
Crossref
Crossref
Adriana M. Monta?o, Hirotaka Oikawa, Shunji Tomatsu, Tatsuo Nishioka, Carole Vogler, Monica A. Gutierrez, Toshihiro Oguma, Yun Tan, Jeffrey H. Grubb, Vu Chi Dung, Amiko Ohashi, Ken-ichi Miyamoto, Tadao Orii, Yukio Yoneda & William S. Sly. (2008) Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII mice. Molecular Genetics and Metabolism 94:2, pages 178-189.
Crossref
Crossref
T. M. Cox, J. M. F. G. Aerts, N. Belmatoug, M. D. Cappellini, S. vom Dahl, J. Goldblatt, G. A. Grabowski, C. E. M. Hollak, P. Hwu, M. Maas, A. M. Martins, P. K. Mistry, G. M. Pastores, A. Tylki‐Szymanska, J. Yee & N. Weinreb. (2008) Management of non‐neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. Journal of Inherited Metabolic Disease 31:3, pages 319-336.
Crossref
Crossref
M. Maas, T. Hangartner, G. Mariani, K. McHugh, S. Moore, G. A. Grabowski, P. Kaplan, A. Vellodi, J. Yee & L. Steinbach. (2007) Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease. Skeletal Radiology 37:3, pages 185-188.
Crossref
Crossref
. (2008) Current World Literature. Current Opinion in Rheumatology 20:1, pages 111-120.
Crossref
Crossref
Hartmut Michels & Eugen Mengel. (2008) Lysosomal storage diseases as differential diagnoses to rheumatic disorders. Current Opinion in Rheumatology 20:1, pages 76-81.
Crossref
Crossref
Rose-Marie Javier & Éric Hachulla. (2007) Atteintes ostéoarticulaires de la maladie de Gaucher chez l'adulte: de la physiopathologie au traitement. La Presse Médicale 36:12, pages 1971-1984.
Crossref
Crossref
?. Hachulla & R.-M. Javier. (2007) Physiopathologie et prise en charge des atteintes osseuses de la maladie de Gaucher chez l?adulte de type 1. La Revue de M?decine Interne 28, pages 180-182.
Crossref
Crossref
Derralynn Hughes, Maria Domenica Cappellini, Marc Berger, Jan Van Droogenbroeck, Maaike de Fost, Dragana Janic, Theodore Marinakis, Hanna Rosenbaum, Jesús Villarubia, Elena Zhukovskaya & Carla Hollak. (2007) Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease. British Journal of Haematology 138:6, pages 676-686.
Crossref
Crossref
Patricia L. RobertsonMario MaasJack Goldblatt. (2007) Semiquantitative Assessment of Skeletal Response to Enzyme Replacement Therapy for Gaucher's Disease Using the Bone Marrow Burden Score. American Journal of Roentgenology 188:6, pages 1521-1528.
Crossref
Crossref
Neal J. Weinreb. (2007) The Bone in Gaucher Disease. Clinical Therapeutics 29, pages S91-S92.
Crossref
Crossref