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Upsala Journal of Medical Sciences Volume 117, 2012 - Issue 1
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Original Article

Substrate reduction therapy with miglustat for type 1 Gaucher disease: A retrospective analysis from a single institution

Maciej MachaczkaDivision of Hematology, Department of Medicine at Huddinge, Karolinska Institutet, and Hematology Center Karolinska, Karolinska University Hospital Huddinge, Stockholm, SwedenCorrespondence[email protected]
,
Robert HastDepartment of Medicine at Solna, Karolinska Institutet, Stockholm, Sweden
,
Ingrid Dahlman Department of Endocrinology, Karolinska University Hospital Huddinge, Stockholm, Sweden
,
Richard LernerDivision of Hematology, Department of Medicine at Huddinge, Karolinska Institutet, and Hematology Center Karolinska, Karolinska University Hospital Huddinge, Stockholm, Sweden
,
Monika KlimkowskaDepartment of Clinical Pathology and Cytology, Karolinska University Hospital Huddinge, Stockholm, Sweden
,
Martin EngvallCentre for Inherited Metabolic Diseases, Karolinska University Hospital Huddinge, Stockholm, Sweden
&
Hans HägglundDivision of Hematology, Department of Medicine at Huddinge, Karolinska Institutet, and Hematology Center Karolinska, Karolinska University Hospital Huddinge, Stockholm, Sweden
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Pages 28-34 | Received 30 Aug 2011, Accepted 10 Nov 2011, Published online: 17 Jan 2012

Citations (25)

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Read on this site (3)

Nadia Sawicka-Gutaj, Maciej Machaczka, Izabela Kulińska-Niedziela, Jadwiga Bernardczyk-Meller, Paweł Gutaj, Jerzy Sowiński & Marek Ruchała. (2016) The appearance of newly identified intraocular lesions in Gaucher disease type 3 despite long-term glucocerebrosidase replacement therapy. Upsala Journal of Medical Sciences 121:3, pages 192-195.
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Maciej Machaczka, Fryderyk Lorenz, Grazina Kleinotiene, Agnieszka Bulanda, Alicja Markuszewska-Kuczyńska, Juozas Raistenskis & Monika Klimkowska. (2014) Recurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 Gaucher disease. Upsala Journal of Medical Sciences 119:1, pages 44-49.
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Maciej Machaczka. (2013) Allogeneic Hematopoietic Stem Cell Transplantation for Treatment of Gaucher Disease. Pediatric Hematology and Oncology 30:5, pages 459-461.
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Articles from other publishers (22)

Haijun Wang, Yin Shen, Lei Zhao & Youfan Ye. (2021) 1-Deoxynojirimycin and its Derivatives: A Mini Review of the Literature. Current Medicinal Chemistry 28:3, pages 628-643.
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James J. Miller, Adam J. Kanack & Nancy M. Dahms. (2020) Progress in the understanding and treatment of Fabry disease. Biochimica et Biophysica Acta (BBA) - General Subjects 1864:1, pages 129437.
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Małgorzata Kałużna, Isabella Trzeciak, Katarzyna Ziemnicka, Maciej Machaczka & Marek Ruchała. (2019) Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review. Orphanet Journal of Rare Diseases 14:1.
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Gustavo H.B. Maegawa. (2019) Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities. Journal of Child Neurology 34:6, pages 339-358.
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Fryderyk Lorenz, Ewa Pawłowicz, Monika Klimkowska, Soheir Beshara, Agnes Bulanda Brustad, Aleksander B. Skotnicki, Anders Wahlin & Maciej Machaczka. (2018) Ferritinemia and serum inflammatory cytokines in Swedish adults with Gaucher disease type 1. Blood Cells, Molecules, and Diseases 68, pages 35-42.
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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.
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Egle Sumskiene & Maciej Machaczka. (2017) Jak rozpoznawać i leczyć chorobę Gauchera: zarys patofizjologii, objawów klinicznych, metod diagnostycznych i leczenia. Acta Haematologica Polonica 48:3, pages 165-173.
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Chloe Christensen & Francis Choy. (2017) A Prospective Treatment Option for Lysosomal Storage Diseases: CRISPR/Cas9 Gene Editing Technology for Mutation Correction in Induced Pluripotent Stem Cells. Diseases 5:1, pages 6.
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Melinda Barkhuizen, David G. Anderson & Anne F. Grobler. (2016) Advances in GBA-associated Parkinson's disease – Pathology, presentation and therapies. Neurochemistry International 93, pages 6-25.
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Alicja Markuszewska-Kuczyńska & Maciej Machaczka. (2015) Zarys objawów klinicznych, leczenia oraz trudności w rozpoznawaniu choroby Gauchera. Acta Haematologica Polonica 46:2, pages 149-157.
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Maciej Machaczka, Cecilia Kämpe Björkvall, Joanna Wieremiejczyk, Martin Paucar Arce, Kristina Myhr-Eriksson, Monika Klimkowska, Hans Hägglund & Per Svenningsson. (2014) Impact of Imiglucerase Supply Shortage on Clinical and Laboratory Parameters in Norrbottnian Patients with Gaucher Disease Type 3. Archivum Immunologiae et Therapiae Experimentalis 63:1, pages 65-71.
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Stefan Porubsky, Richard Jennemann, Lorenz Lehmann & Hermann-Josef Gröne. (2014) Depletion of globosides and isoglobosides fully reverts the morphologic phenotype of Fabry disease.. Cell and Tissue Research 358:1, pages 217-227.
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Alicja Markuszewska-Kuczyńska, Cecilia Kämpe Björkvall, Fryderyk Lorenz, Grazina Kleinotiene, Monika Klimkowska & Maciej Machaczka. (2014) Długotrwała pancytopenia po chemioterapii jako objaw demaskujący chorobę Gauchera u pacjentki z rakiem płuca. Acta Haematologica Polonica 45:3, pages 294-300.
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Fryderyk Lorenz, Aleksander B. Skotnicki & Maciej Machaczka. (2014) Wartość diagnostyczna i zastosowanie kliniczne biomarkerów oraz ferrytynemii w chorobie Gauchera. Acta Haematologica Polonica 45:2, pages 149-154.
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J. Désiré, M. Mondon, N. Fontelle, S. Nakagawa, Y. Hirokami, I. Adachi, R. Iwaki, G. W. J. Fleet, D. S. Alonzi, G. Twigg, T. D. Butters, J. Bertrand, V. Cendret, F. Becq, C. Norez, J. Marrot, A. Kato & Y. Blériot. (2014) N- and C-alkylation of seven-membered iminosugars generates potent glucocerebrosidase inhibitors and F508del-CFTR correctors. Org. Biomol. Chem. 12:44, pages 8977-8996.
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Sarah F. JenkinsonDaniel BestA. Waldo SavilleJames MuiR. Fernando MartínezShinpei Nakagawa, Takahito Kunimatsu, Dominic S. AlonziTerry D. ButtersCaroline Norez, Frederic Becq, Yves Blériot, Francis X. WilsonAlexander C. Weymouth-WilsonAtsushi Kato & George W. J. Fleet. (2013) C -Branched Iminosugars: α-Glucosidase Inhibition by Enantiomers of isoDMDP, isoDGDP, and isoDAB– l -isoDMDP Compared to Miglitol and Miglustat . The Journal of Organic Chemistry 78:15, pages 7380-7397.
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Maciej Machaczka. (2013) Co hematolog powinien wiedzieć o chorobie Gauchera. Acta Haematologica Polonica 44:3, pages 301-306.
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Julian R. Arthur, Michael W. Wilson, Scott D. Larsen, Hannah E. Rockwell, James A. Shayman & Thomas N. Seyfried. (2013) Ethylenedioxy-PIP2 Oxalate Reduces Ganglioside Storage in Juvenile Sandhoff Disease Mice. Neurochemical Research 38:4, pages 866-875.
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Derya Erdogdu, Asli Gelincik, Bülent Canbaz, Bahattin Colakoglu, Suna Büyüköztürk & Refik Tanakol. (2013) Successful Desensitization to Imiglucerase of an Adult Patient Diagnosed with Type I Gaucher Disease. International Archives of Allergy and Immunology 160:2, pages 215-217.
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Thomas H. Beckham, Joseph C. Cheng, S. Tucker Marrison, James S. Norris & Xiang Liu. 2013. The Role of Sphingolipids in Cancer Development and Therapy. The Role of Sphingolipids in Cancer Development and Therapy 1 36 .
Zyta Banecka-Majkutewicz, Joanna Jakóbkiewicz-Banecka, Magdalena Gabig-Cimińska, Alicja Węgrzyn & Grzegorz Węgrzyn. (2012) Putative Biological Mechanisms of Efficiency of Substrate Reduction Therapies for Mucopolysaccharidoses. Archivum Immunologiae et Therapiae Experimentalis 60:6, pages 461-468.
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M Machaczka, M Klimkowska & H Hägglund. (2012) Unexpected cure from cutaneous leukocytoclastic vasculitis in a patient treated with N-butyldeoxynojirimycin (miglustat) for Gaucher disease. Advances in Medical Sciences 57:1, pages 169-173.
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