TY - JOUR AU - Grabowski, G. A. PY - 2008 DA - 2008// TI - Phenotype, diagnosis, and treatment of Gaucher's disease JO - Lancet VL - 372 UR - https://doi.org/10.1016/S0140-6736(08)61522-6 DO - 10.1016/S0140-6736(08)61522-6 ID - Grabowski2008 ER - TY - JOUR AU - Tylki-Szymanska, A. AU - Czartoryska, B. AU - Vanier, M. T. AU - Poorthuis, B. J. AU - Groener, J. A. AU - Lugowska, A. PY - 2007 DA - 2007// TI - Non-neuronopathic Gaucher disease due to saposin C deficiency JO - Clin Genet VL - 72 UR - https://doi.org/10.1111/j.1399-0004.2007.00899.x DO - 10.1111/j.1399-0004.2007.00899.x ID - Tylki-Szymanska2007 ER - TY - JOUR AU - Machaczka, M. AU - Hast, R. AU - Dahlman, I. AU - Lerner, R. AU - Klimkowska, M. AU - Engvall, M. PY - 2012 DA - 2012// TI - Substrate reduction therapy with miglustat for type 1 Gaucher disease: a retrospective analysis from a single institution JO - Ups J Med Sci VL - 117 UR - https://doi.org/10.3109/03009734.2011.641609 DO - 10.3109/03009734.2011.641609 ID - Machaczka2012 ER - TY - JOUR AU - Machaczka, M. AU - Kampe Bjorkvall, C. AU - Wieremiejczyk, J. AU - Paucar Arce, M. AU - Myhr-Eriksson, K. AU - Klimkowska, M. PY - 2015 DA - 2015// TI - Impact of imiglucerase supply shortage on clinical and laboratory parameters in Norrbottnian patients with Gaucher disease type 3 JO - Arch Immunol Ther Exp (Warsz) VL - 63 UR - https://doi.org/10.1007/s00005-014-0308-8 DO - 10.1007/s00005-014-0308-8 ID - Machaczka2015 ER - TY - JOUR AU - Sawicka-Gutaj, N. AU - Machaczka, M. AU - Kulinska-Niedziela, I. AU - Bernardczyk-Meller, J. AU - Gutaj, P. AU - Sowinski, J. PY - 2016 DA - 2016// TI - The appearance of newly identified intraocular lesions in Gaucher disease type 3 despite long-term glucocerebrosidase replacement therapy JO - Ups J Med Sci VL - 121 UR - https://doi.org/10.3109/03009734.2016.1158756 DO - 10.3109/03009734.2016.1158756 ID - Sawicka-Gutaj2016 ER - TY - JOUR AU - Machaczka, M. AU - Paucar, M. AU - Bjorkvall, C. K. AU - Smith, N. J. C. AU - Cox, T. M. AU - Forsgren, L. PY - 2018 DA - 2018// TI - Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients JO - Blood Cells Mol Dis VL - 68 UR - https://doi.org/10.1016/j.bcmd.2016.10.011 DO - 10.1016/j.bcmd.2016.10.011 ID - Machaczka2018 ER - TY - JOUR AU - Breigeiron, M. K. AU - Moraes, V. D. C. AU - Coelho, J. C. PY - 2018 DA - 2018// TI - Signs and symptoms in Gaucher Disease: priority nursing diagnoses JO - Rev Bras Enferm VL - 71 UR - https://doi.org/10.1590/0034-7167-2016-0434 DO - 10.1590/0034-7167-2016-0434 ID - Breigeiron2018 ER - TY - JOUR AU - Giraldo, P. AU - Perez-Lopez, J. AU - Nunez, R. AU - Puebla, R. F. AU - Luno, E. AU - Saura-Grau, S. PY - 2016 DA - 2016// TI - Patients with type 1 Gaucher disease in Spain: A cross-sectional evaluation of health status JO - Blood Cells Mol Dis VL - 56 UR - https://doi.org/10.1016/j.bcmd.2015.10.001 DO - 10.1016/j.bcmd.2015.10.001 ID - Giraldo2016 ER - TY - JOUR AU - Ida, H. AU - Rennert, O. M. AU - Ito, T. AU - Maekawa, K. AU - Eto, Y. PY - 1998 DA - 1998// TI - Type 1 Gaucher disease: phenotypic expression and natural history in Japanese patients JO - Blood Cells Mol Dis VL - 24 UR - https://doi.org/10.1006/bcmd.1998.0172 DO - 10.1006/bcmd.1998.0172 ID - Ida1998 ER - TY - JOUR AU - Zevin, S. AU - Abrahamov, A. AU - Hadas-Halpern, I. AU - Kannai, R. AU - Levy-Lahad, E. AU - Horowitz, M. PY - 1993 DA - 1993// TI - Adult-type Gaucher disease in children: genetics, clinical features and enzyme replacement therapy JO - Q J Med VL - 86 ID - Zevin1993 ER - TY - JOUR AU - Bembi, B. AU - Zanatta, M. AU - Carrozzi, M. AU - Baralle, F. AU - Gornati, R. AU - Berra, B. PY - 1994 DA - 1994// TI - Enzyme replacement treatment in type 1 and type 3 Gaucher's disease JO - Lancet VL - 344 UR - https://doi.org/10.1016/S0140-6736(94)90462-6 DO - 10.1016/S0140-6736(94)90462-6 ID - Bembi1994 ER - TY - JOUR AU - Drelichman, G. AU - Ponce, E. AU - Basack, N. AU - Freigeiro, D. AU - Aversa, L. AU - Graciela, E. PY - 2007 DA - 2007// TI - Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease JO - J Pediatr VL - 151 UR - https://doi.org/10.1016/j.jpeds.2007.02.057 DO - 10.1016/j.jpeds.2007.02.057 ID - Drelichman2007 ER - TY - JOUR AU - Oliveira, M. C. AU - Oliveira, B. M. AU - Queiros, E. AU - Viana, M. B. PY - 2002 DA - 2002// TI - Clinical and nutritional aspects of Gaucher disease: prospective study of 13 children at a single center JO - J Pediatr VL - 78 UR - https://doi.org/10.2223/JPED.909 DO - 10.2223/JPED.909 ID - Oliveira2002 ER - TY - JOUR AU - Heitner, R. AU - Arndt, S. AU - Levin, J. B. PY - 2004 DA - 2004// TI - Imiglucerase low-dose therapy for paediatric Gaucher disease--a long-term cohort study JO - S Afr Med J VL - 94 ID - Heitner2004 ER - TY - JOUR AU - Doneda, D. AU - Netto, C. B. AU - Moulin, C. C. AU - Schwartz, I. V. PY - 2013 DA - 2013// TI - Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients: a systematic review JO - Nutr Metab (Lond) VL - 10 UR - https://doi.org/10.1186/1743-7075-10-34 DO - 10.1186/1743-7075-10-34 ID - Doneda2013 ER - TY - JOUR AU - Langeveld, M. AU - Fost, M. AU - Aerts, J. M. AU - Sauerwein, H. P. AU - Hollak, C. E. PY - 2008 DA - 2008// TI - Overweight, insulin resistance and type II diabetes in type I Gaucher disease patients in relation to enzyme replacement therapy JO - Blood Cells Mol Dis VL - 40 UR - https://doi.org/10.1016/j.bcmd.2007.09.002 DO - 10.1016/j.bcmd.2007.09.002 ID - Langeveld2008 ER - TY - JOUR AU - Hollak, C. E. AU - Corssmit, E. P. AU - Aerts, J. M. AU - Endert, E. AU - Sauerwein, H. P. AU - Romijn, J. A. PY - 1997 DA - 1997// TI - Differential effects of enzyme supplementation therapy on manifestations of type 1 Gaucher disease JO - Am J Med VL - 103 UR - https://doi.org/10.1016/S0002-9343(97)00134-4 DO - 10.1016/S0002-9343(97)00134-4 ID - Hollak1997 ER - TY - JOUR AU - Corssmit, E. P. AU - Hollak, C. E. AU - Endert, E. AU - Oers, M. H. AU - Sauerwein, H. P. AU - Romijn, J. A. PY - 1995 DA - 1995// TI - Increased basal glucose production in type 1 Gaucher's disease JO - J Clin Endocrinol Metab VL - 80 UR - https://doi.org/10.1210/jcem.80.9.7673407 DO - 10.1210/jcem.80.9.7673407 ID - Corssmit1995 ER - TY - JOUR AU - Barton, D. J. AU - Ludman, M. D. AU - Benkov, K. AU - Grabowski, G. A. AU - LeLeiko, N. S. PY - 1989 DA - 1989// TI - Resting energy expenditure in Gaucher's disease type 1: effect of Gaucher's cell burden on energy requirements JO - Metabolism VL - 38 UR - https://doi.org/10.1016/0026-0495(89)90165-0 DO - 10.1016/0026-0495(89)90165-0 ID - Barton1989 ER - TY - JOUR AU - Grigorescu Sido, P. AU - Drugan, C. AU - Cret, V. AU - Al-Kzouz, C. AU - Denes, C. AU - Coldea, C. PY - 2007 DA - 2007// TI - Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience JO - J Inherit Metab Dis VL - 30 UR - https://doi.org/10.1007/s10545-007-0621-z DO - 10.1007/s10545-007-0621-z ID - Grigorescu Sido2007 ER - TY - JOUR AU - Doneda, D. AU - Lopes, A. L. AU - Oliveira, A. R. AU - Netto, C. B. AU - Moulin, C. C. AU - Schwartz, I. V. PY - 2011 DA - 2011// TI - Gaucher disease type I: assessment of basal metabolic rate in patients from southern Brazil JO - Blood Cells Mol Dis VL - 46 UR - https://doi.org/10.1016/j.bcmd.2010.10.008 DO - 10.1016/j.bcmd.2010.10.008 ID - Doneda2011 ER - TY - JOUR AU - Hendricks, A. E. AU - Bochukova, E. G. AU - Marenne, G. AU - Keogh, J. M. AU - Atanassova, N. AU - Bounds, R. PY - 2017 DA - 2017// TI - Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity JO - Sci Rep VL - 7 UR - https://doi.org/10.1038/s41598-017-03054-8 DO - 10.1038/s41598-017-03054-8 ID - Hendricks2017 ER - TY - JOUR AU - Wilcox, G. PY - 2005 DA - 2005// TI - Insulin and insulin resistance JO - Clin Biochem Rev VL - 26 ID - Wilcox2005 ER - TY - JOUR AU - Tune, J. D. AU - Goodwill, A. G. AU - Sassoon, D. J. AU - Mather, K. J. PY - 2017 DA - 2017// TI - Cardiovascular consequences of metabolic syndrome JO - Transl Res VL - 183 UR - https://doi.org/10.1016/j.trsl.2017.01.001 DO - 10.1016/j.trsl.2017.01.001 ID - Tune2017 ER - TY - JOUR AU - Shoelson, S. E. AU - Lee, J. AU - Goldfine, A. B. PY - 2006 DA - 2006// TI - Inflammation and insulin resistance JO - J Clin Invest VL - 116 UR - https://doi.org/10.1172/JCI29069 DO - 10.1172/JCI29069 ID - Shoelson2006 ER - TY - JOUR AU - Szurkowska, M. AU - Szafraniec, K. AU - Gilis-Januszewska, A. AU - Szybinski, Z. AU - Huszno, B. PY - 2005 DA - 2005// TI - Insulin resistance indices in population-based study and their predictive value in defining metabolic syndrome JO - Przegl Epidemiol VL - 59 ID - Szurkowska2005 ER - TY - JOUR AU - Fuller, M. PY - 2010 DA - 2010// TI - Sphingolipids: the nexus between Gaucher disease and insulin resistance JO - Lipids Health Dis VL - 9 UR - https://doi.org/10.1186/1476-511X-9-113 DO - 10.1186/1476-511X-9-113 ID - Fuller2010 ER - TY - JOUR AU - Meikle, P. J. AU - Whitfield, P. D. AU - Rozaklis, T. AU - Blacklock, D. AU - Duplock, S. AU - Elstein, D. PY - 2008 DA - 2008// TI - Plasma lipids are altered in Gaucher disease: biochemical markers to evaluate therapeutic intervention JO - Blood Cells Mol Dis VL - 40 UR - https://doi.org/10.1016/j.bcmd.2007.10.004 DO - 10.1016/j.bcmd.2007.10.004 ID - Meikle2008 ER - TY - JOUR AU - Ghauharali-van der Vlugt, K. AU - Langeveld, M. AU - Poppema, A. AU - Kuiper, S. AU - Hollak, C. E. AU - Aerts, J. M. PY - 2008 DA - 2008// TI - Prominent increase in plasma ganglioside GM3 is associated with clinical manifestations of type I Gaucher disease JO - Clin Chim Acta VL - 389 UR - https://doi.org/10.1016/j.cca.2007.12.001 DO - 10.1016/j.cca.2007.12.001 ID - Ghauharali-van der Vlugt2008 ER - TY - JOUR AU - Bickel, P. E. PY - 2002 DA - 2002// TI - Lipid rafts and insulin signaling JO - Am J Physiol Endocrinol Metab VL - 282 UR - https://doi.org/10.1152/ajpendo.2002.282.1.E1 DO - 10.1152/ajpendo.2002.282.1.E1 ID - Bickel2002 ER - TY - JOUR AU - Inokuchi, J. PY - 2007 DA - 2007// TI - Insulin resistance as a membrane microdomain disorder JO - Yakugaku Zasshi VL - 127 UR - https://doi.org/10.1248/yakushi.127.579 DO - 10.1248/yakushi.127.579 ID - Inokuchi2007 ER - TY - JOUR AU - Melander, A. AU - Olsson, J. AU - Lindberg, G. AU - Salzman, A. AU - Howard, T. AU - Stang, P. PY - 1999 DA - 1999// TI - 35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999 JO - Diabetologia VL - 42 UR - https://doi.org/10.1007/BF03375458 DO - 10.1007/BF03375458 ID - Melander1999 ER - TY - JOUR AU - Cho, H. AU - Mu, J. AU - Kim, J. K. AU - Thorvaldsen, J. L. AU - Chu, Q. AU - Crenshaw, E. B. PY - 2001 DA - 2001// TI - Insulin resistance and a diabetes mellitus-like syndrome in mice lacking the protein kinase Akt2 (PKB beta) JO - Science VL - 292 UR - https://doi.org/10.1126/science.292.5522.1728 DO - 10.1126/science.292.5522.1728 ID - Cho2001 ER - TY - JOUR AU - Lorenz, F. AU - Pawlowicz, E. AU - Klimkowska, M. AU - Beshara, S. AU - Bulanda Brustad, A. AU - Skotnicki, A. B. PY - 2018 DA - 2018// TI - Ferritinemia and serum inflammatory cytokines in Swedish adults with Gaucher disease type 1 JO - Blood Cells Mol Dis VL - 68 UR - https://doi.org/10.1016/j.bcmd.2016.10.010 DO - 10.1016/j.bcmd.2016.10.010 ID - Lorenz2018 ER - TY - JOUR AU - Langeveld, M. AU - Ghauharali, K. J. AU - Sauerwein, H. P. AU - Ackermans, M. T. AU - Groener, J. E. AU - Hollak, C. E. PY - 2008 DA - 2008// TI - Type I Gaucher disease, a glycosphingolipid storage disorder, is associated with insulin resistance JO - J Clin Endocrinol Metab VL - 93 UR - https://doi.org/10.1210/jc.2007-1702 DO - 10.1210/jc.2007-1702 ID - Langeveld2008 ER - TY - JOUR AU - Aerts, J. M. AU - Ottenhoff, R. AU - Powlson, A. S. AU - Grefhorst, A. AU - Eijk, M. AU - Dubbelhuis, P. F. PY - 2007 DA - 2007// TI - Pharmacological inhibition of glucosylceramide synthase enhances insulin sensitivity JO - Diabetes VL - 56 UR - https://doi.org/10.2337/db06-1619 DO - 10.2337/db06-1619 ID - Aerts2007 ER - TY - JOUR AU - Eijk, M. AU - Aten, J. AU - Bijl, N. AU - Ottenhoff, R. AU - Roomen, C. P. AU - Dubbelhuis, P. F. PY - 2009 DA - 2009// TI - Reducing glycosphingolipid content in adipose tissue of obese mice restores insulin sensitivity, adipogenesis and reduces inflammation JO - PLoS One VL - 4 UR - https://doi.org/10.1371/journal.pone.0004723 DO - 10.1371/journal.pone.0004723 ID - Eijk2009 ER - TY - JOUR AU - Ucar, S. K. AU - Coker, M. AU - Argin, M. AU - Akman, S. AU - Kara, S. AU - Simsek, D. G. PY - 2009 DA - 2009// TI - A cross-sectional, mono-centric pilot study of insulin resistance in enzyme replacement therapy patients with Gaucher type I without overweight JO - Mol Genet Metab VL - 96 UR - https://doi.org/10.1016/j.ymgme.2008.10.001 DO - 10.1016/j.ymgme.2008.10.001 ID - Ucar2009 ER - TY - JOUR AU - Zimmermann, A. AU - Grigorescu-Sido, P. AU - Rossmann, H. AU - Lackner, K. J. AU - Drugan, C. AU - Khzouz, C. AU - Bucerzan, S. AU - Nascu, I. AU - Popp, R. A. AU - Zimmermann, T. AU - Weber, M. M. PY - 2015 DA - 2015// TI - A Prospective Study of Insulin Resistance in Gaucher Disease Type 1 Patients with Normal Weight, under Enzyme Replacement Therapy JO - Acta Endocrinol VL - 11 UR - https://doi.org/10.4183/aeb.2015.180 DO - 10.4183/aeb.2015.180 ID - Zimmermann2015 ER - TY - JOUR AU - Bennett, L. L. AU - Fellner, C. PY - 2018 DA - 2018// TI - Pharmacotherapy of Gaucher Disease: Current and Future Options JO - Pharm Ther VL - 43 ID - Bennett2018 ER - TY - JOUR AU - Zimmermann, A. AU - Grigorescu-Sido, P. AU - Rossmann, H. AU - Lackner, K. J. AU - Drugan, C. AU - Khzouz, C. PY - 2013 DA - 2013// TI - Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective study JO - J Inherit Metab Dis VL - 36 UR - https://doi.org/10.1007/s10545-012-9529-3 DO - 10.1007/s10545-012-9529-3 ID - Zimmermann2013 ER - TY - JOUR AU - Thomas, A. S. AU - Mehta, A. B. AU - Hughes, D. A. PY - 2013 DA - 2013// TI - Diagnosing Gaucher disease: an on-going need for increased awareness amongst haematologists JO - Blood Cells Mol Dis VL - 50 UR - https://doi.org/10.1016/j.bcmd.2012.11.004 DO - 10.1016/j.bcmd.2012.11.004 ID - Thomas2013 ER - TY - JOUR AU - Alfonso, P. AU - Cenarro, A. AU - Perez-Calvo, J. I. AU - Puzo, J. AU - Giralt, M. AU - Giraldo, P. PY - 2003 DA - 2003// TI - Effect of enzyme replacement therapy on lipid profile in patients with Gaucher's disease JO - Med Clin (Barc) VL - 120 UR - https://doi.org/10.1016/S0025-7753(03)73797-X DO - 10.1016/S0025-7753(03)73797-X ID - Alfonso2003 ER - TY - JOUR AU - Fost, M. AU - Langeveld, M. AU - Franssen, R. AU - Hutten, B. A. AU - Groener, J. E. AU - Groot, E. PY - 2009 DA - 2009// TI - Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease JO - Atherosclerosis VL - 204 UR - https://doi.org/10.1016/j.atherosclerosis.2008.08.027 DO - 10.1016/j.atherosclerosis.2008.08.027 ID - Fost2009 ER - TY - JOUR AU - Puzo, J. AU - Alfonso, P. AU - Irun, P. AU - Gervas, J. AU - Pocovi, M. AU - Giraldo, P. PY - 2010 DA - 2010// TI - Changes in the atherogenic profile of patients with type 1 Gaucher disease after miglustat therapy JO - Atherosclerosis VL - 209 UR - https://doi.org/10.1016/j.atherosclerosis.2009.10.015 DO - 10.1016/j.atherosclerosis.2009.10.015 ID - Puzo2010 ER - TY - JOUR AU - Doneda, D. AU - Lopes, A. L. AU - Teixeira, B. C. AU - Mittelstadt, S. D. AU - Moulin, C. C. AU - Schwartz, I. V. PY - 2015 DA - 2015// TI - Ghrelin, leptin and adiponectin levels in Gaucher disease type I patients on enzyme replacement therapy JO - Clin Nutr VL - 34 UR - https://doi.org/10.1016/j.clnu.2014.08.010 DO - 10.1016/j.clnu.2014.08.010 ID - Doneda2015 ER - TY - JOUR AU - Zimmermann, A. AU - Popp, R. A. AU - Al-Khzouz, C. AU - Bucerzan, S. AU - Nascu, I. AU - Leucuta, D. PY - 2016 DA - 2016// TI - Cholelithiasis in Patients with Gaucher Disease type 1: Risk Factors and the Role of ABCG5/ABCG8 Gene Variants JO - J Gastrointestin Liver Dis VL - 25 UR - https://doi.org/10.15403/jgld.2014.1121.254.zim DO - 10.15403/jgld.2014.1121.254.zim ID - Zimmermann2016 ER - TY - JOUR AU - Cohen, I. J. AU - Yaniv, I. AU - Baris, H. PY - 2010 DA - 2010// TI - Diagnosis of severe type 1 Gaucher's disease before irreversible damage occurs : is HDL cholesterol the answer? JO - Br J Haematol VL - 150 UR - https://doi.org/10.1111/j.1365-2141.2010.08167.x DO - 10.1111/j.1365-2141.2010.08167.x ID - Cohen2010 ER - TY - JOUR AU - Stein, P. AU - Yang, R. AU - Liu, J. AU - Pastores, G. M. AU - Mistry, P. K. PY - 2011 DA - 2011// TI - Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity JO - J Inherit Metab Dis VL - 34 UR - https://doi.org/10.1007/s10545-010-9271-7 DO - 10.1007/s10545-010-9271-7 ID - Stein2011 ER - TY - JOUR AU - Taddei, T. H. AU - Dziura, J. AU - Chen, S. AU - Yang, R. AU - Hyogo, H. AU - Sullards, C. PY - 2010 DA - 2010// TI - High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease JO - J Inherit Metab Dis VL - 33 UR - https://doi.org/10.1007/s10545-010-9070-1 DO - 10.1007/s10545-010-9070-1 ID - Taddei2010 ER - TY - JOUR AU - Zhou, H. AU - Song, X. AU - Briggs, M. AU - Violand, B. AU - Salsgiver, W. AU - Gulve, E. A. PY - 2005 DA - 2005// TI - Adiponectin represses gluconeogenesis independent of insulin in hepatocytes JO - Biochem Biophys Res Commun VL - 338 UR - https://doi.org/10.1016/j.bbrc.2005.10.007 DO - 10.1016/j.bbrc.2005.10.007 ID - Zhou2005 ER - TY - JOUR AU - Ceddia, R. B. AU - Somwar, R. AU - Maida, A. AU - Fang, X. AU - Bikopoulos, G. AU - Sweeney, G. PY - 2005 DA - 2005// TI - Globular adiponectin increases GLUT4 translocation and glucose uptake but reduces glycogen synthesis in rat skeletal muscle cells JO - Diabetologia VL - 48 UR - https://doi.org/10.1007/s00125-004-1609-y DO - 10.1007/s00125-004-1609-y ID - Ceddia2005 ER - TY - JOUR AU - Esfahani, M. AU - Movahedian, A. AU - Baranchi, M. AU - Goodarzi, M. T. PY - 2015 DA - 2015// TI - Adiponectin: an adipokine with protective features against metabolic syndrome JO - Iran J Basic Med Sci VL - 18 ID - Esfahani2015 ER - TY - JOUR AU - Arita, Y. AU - Kihara, S. AU - Ouchi, N. AU - Takahashi, M. AU - Maeda, K. AU - Miyagawa, J. PY - 1999 DA - 1999// TI - Paradoxical decrease of an adipose-specific protein, adiponectin, in obesity JO - Biochem Biophys Res Commun VL - 257 UR - https://doi.org/10.1006/bbrc.1999.0255 DO - 10.1006/bbrc.1999.0255 ID - Arita1999 ER - TY - JOUR AU - Tschritter, O. AU - Fritsche, A. AU - Thamer, C. AU - Haap, M. AU - Shirkavand, F. AU - Rahe, S. PY - 2003 DA - 2003// TI - Plasma adiponectin concentrations predict insulin sensitivity of both glucose and lipid metabolism JO - Diabetes VL - 52 UR - https://doi.org/10.2337/diabetes.52.2.239 DO - 10.2337/diabetes.52.2.239 ID - Tschritter2003 ER - TY - JOUR AU - Weyer, C. AU - Funahashi, T. AU - Tanaka, S. AU - Hotta, K. AU - Matsuzawa, Y. AU - Pratley, R. E. PY - 2001 DA - 2001// TI - Hypoadiponectinemia in obesity and type 2 diabetes: close association with insulin resistance and hyperinsulinemia JO - J Clin Endocrinol Metab VL - 86 UR - https://doi.org/10.1210/jcem.86.5.7463 DO - 10.1210/jcem.86.5.7463 ID - Weyer2001 ER - TY - JOUR AU - Langeveld, M. AU - Scheij, S. AU - Dubbelhuis, P. AU - Hollak, C. E. AU - Sauerwein, H. P. AU - Simons, P. PY - 2007 DA - 2007// TI - Very low serum adiponectin levels in patients with type 1 Gaucher disease without overt hyperglycemia JO - Metabolism VL - 56 UR - https://doi.org/10.1016/j.metabol.2006.10.014 DO - 10.1016/j.metabol.2006.10.014 ID - Langeveld2007 ER - TY - JOUR AU - Ren, D. AU - Li, M. AU - Duan, C. AU - Rui, L. PY - 2005 DA - 2005// TI - Identification of SH2-B as a key regulator of leptin sensitivity, energy balance, and body weight in mice JO - Cell Metab VL - 2 UR - https://doi.org/10.1016/j.cmet.2005.07.004 DO - 10.1016/j.cmet.2005.07.004 ID - Ren2005 ER - TY - JOUR AU - Delporte, C. PY - 2013 DA - 2013// TI - Structure and physiological actions of ghrelin JO - Scientifica (Cairo) VL - 2013 UR - https://doi.org/10.1155/2013/518909 DO - 10.1155/2013/518909 ID - Delporte2013 ER - TY - JOUR AU - Agilli, M. AU - Aydin, F. N. AU - Kurt, Y. G. PY - 2015 DA - 2015// TI - Leptin levels in Gaucher disease type I patients: A methodological approach JO - Clin Nutr VL - 34 UR - https://doi.org/10.1016/j.clnu.2014.12.017 DO - 10.1016/j.clnu.2014.12.017 ID - Agilli2015 ER - TY - JOUR AU - Riad-Gabriel, M. G. AU - Jinagouda, S. D. AU - Sharma, A. AU - Boyadjian, R. AU - Saad, M. F. PY - 1998 DA - 1998// TI - Changes in plasma leptin during the menstrual cycle JO - Eur J Endocrinol VL - 139 UR - https://doi.org/10.1530/eje.0.1390528 DO - 10.1530/eje.0.1390528 ID - Riad-Gabriel1998 ER - TY - JOUR AU - Takahashi, Y. AU - Satoh, M. AU - Tabuchi, T. AU - Nakamura, M. PY - 2012 DA - 2012// TI - Prospective, randomized, single-blind comparison of effects of 6 months' treatment with atorvastatin versus pravastatin on leptin and angiogenic factors in patients with coronary artery disease JO - Heart Vessel VL - 27 UR - https://doi.org/10.1007/s00380-011-0156-y DO - 10.1007/s00380-011-0156-y ID - Takahashi2012 ER - TY - JOUR AU - Xiong, R. B. AU - Li, Q. AU - Wan, W. R. AU - Guo, J. Q. AU - Luo, B. D. AU - Gan, L. PY - 2014 DA - 2014// TI - Effects and mechanisms of vitamin A and vitamin E on the levels of serum leptin and other related cytokines in rats with rheumatoid arthritis JO - Exp Ther Med VL - 8 UR - https://doi.org/10.3892/etm.2014.1777 DO - 10.3892/etm.2014.1777 ID - Xiong2014 ER - TY - JOUR AU - Hollak, C. E. AU - Evers, L. AU - Aerts, J. M. AU - Oers, M. H. PY - 1997 DA - 1997// TI - Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease JO - Blood Cells Mol Dis VL - 23 UR - https://doi.org/10.1006/bcmd.1997.0137 DO - 10.1006/bcmd.1997.0137 ID - Hollak1997 ER - TY - JOUR AU - Kauli, R. AU - Zaizov, R. AU - Lazar, L. AU - Pertzelan, A. AU - Laron, Z. AU - Galatzer, A. PY - 2000 DA - 2000// TI - Delayed growth and puberty in patients with Gaucher disease type 1: natural history and effect of splenectomy and/or enzyme replacement therapy JO - Isr Med Assoc J VL - 2 ID - Kauli2000 ER - TY - JOUR AU - Langeveld, M. AU - Endert, E. AU - Wiersinga, W. M. AU - Aerts, J. M. AU - Hollak, C. E. PY - 2007 DA - 2007// TI - Hypermetabolism in Gaucher disease type I is not associated with altered thyroid hormone levels JO - J Inherit Metab Dis VL - 30 UR - https://doi.org/10.1007/s10545-007-0715-7 DO - 10.1007/s10545-007-0715-7 ID - Langeveld2007 ER - TY - JOUR AU - Ross, R. J. AU - Buchanan, C. R. PY - 1990 DA - 1990// TI - Growth hormone secretion: its regulation and the influence of nutritional factors JO - Nutr Res Rev VL - 3 UR - https://doi.org/10.1079/NRR19900010 DO - 10.1079/NRR19900010 ID - Ross1990 ER - TY - JOUR AU - Kaplan, P. AU - Andersson, H. C. AU - Kacena, K. A. AU - Yee, J. D. PY - 2006 DA - 2006// TI - The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis JO - Arch Pediatr Adolesc Med VL - 160 UR - https://doi.org/10.1001/archpedi.160.6.603 DO - 10.1001/archpedi.160.6.603 ID - Kaplan2006 ER - TY - JOUR AU - Rite, S. AU - Baldellou, A. AU - Giraldo, P. AU - Labarta, J. I. AU - Giralt, M. AU - Rubio-Felix, D. PY - 2002 DA - 2002// TI - Insulin-like growth factors in childhood-onset Gaucher disease JO - Pediatr Res VL - 52 UR - https://doi.org/10.1203/00006450-200207000-00020 DO - 10.1203/00006450-200207000-00020 ID - Rite2002 ER - TY - JOUR AU - Kaplan, P. AU - Mazur, A. AU - Manor, O. AU - Charrow, J. AU - Esplin, J. AU - Gribble, T. J. PY - 1996 DA - 1996// TI - Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase JO - J Pediatr VL - 129 UR - https://doi.org/10.1016/S0022-3476(96)70203-2 DO - 10.1016/S0022-3476(96)70203-2 ID - Kaplan1996 ER - TY - JOUR AU - Pastores, G. M. AU - Weinreb, N. J. AU - Aerts, H. AU - Andria, G. AU - Cox, T. M. AU - Giralt, M. PY - 2004 DA - 2004// TI - Therapeutic goals in the treatment of Gaucher disease JO - Semin Hematol VL - 41 UR - https://doi.org/10.1053/j.seminhematol.2004.07.009 DO - 10.1053/j.seminhematol.2004.07.009 ID - Pastores2004 ER - TY - JOUR AU - Biasucci, G. AU - Manfredi, P. PY - 2010 DA - 2010// TI - Pediatric Gaucher disease type I and mild growth hormone deficiency: a new feature? JO - J Inherit Metab Dis VL - 33 UR - https://doi.org/10.1007/s10545-009-9016-7 DO - 10.1007/s10545-009-9016-7 ID - Biasucci2010 ER - TY - JOUR AU - Mendelsohn, E. AU - Meir, A. AU - Abrahamov, A. AU - Elstein, D. AU - Zimran, A. AU - Levy-Khademi, F. PY - 2018 DA - 2018// TI - Growth and final height of children with Gaucher disease: A 15-year follow-up at an Israeli Gaucher center JO - Blood Cells Mol Dis VL - 68 UR - https://doi.org/10.1016/j.bcmd.2016.11.014 DO - 10.1016/j.bcmd.2016.11.014 ID - Mendelsohn2018 ER - TY - JOUR AU - Granovsky-Grisaru, S. AU - Aboulafia, Y. AU - Diamant, Y. Z. AU - Horowitz, M. AU - Abrahamov, A. AU - Zimran, A. PY - 1995 DA - 1995// TI - Gynecologic and obstetric aspects of Gaucher's disease: a survey of 53 patients JO - Am J Obstet Gynecol VL - 172 UR - https://doi.org/10.1016/0002-9378(95)91494-3 DO - 10.1016/0002-9378(95)91494-3 ID - Granovsky-Grisaru1995 ER - TY - JOUR AU - Gelfand, R. A. AU - Hutchinson-Williams, K. A. AU - Bonde, A. A. AU - Castellino, P. AU - Sherwin, R. S. PY - 1987 DA - 1987// TI - Catabolic effects of thyroid hormone excess: the contribution of adrenergic activity to hypermetabolism and protein breakdown JO - Metabolism VL - 36 UR - https://doi.org/10.1016/0026-0495(87)90168-5 DO - 10.1016/0026-0495(87)90168-5 ID - Gelfand1987 ER - TY - JOUR AU - Lo, S. M. AU - Stein, P. AU - Mullaly, S. AU - Bar, M. AU - Jain, D. AU - Pastores, G. M. PY - 2010 DA - 2010// TI - Expanding spectrum of the association between Type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types--correlation with genotype and phenotype JO - Am J Hematol VL - 85 UR - https://doi.org/10.1002/ajh.21684 DO - 10.1002/ajh.21684 ID - Lo2010 ER - TY - JOUR AU - Baldini, M. AU - Casirati, G. AU - Ulivieri, F. M. AU - Cassinerio, E. AU - Khouri Chalouhi, K. AU - Poggiali, E. PY - 2018 DA - 2018// TI - Skeletal involvement in type 1 Gaucher disease: Not just bone mineral density JO - Blood Cells Mol Dis VL - 68 UR - https://doi.org/10.1016/j.bcmd.2017.06.003 DO - 10.1016/j.bcmd.2017.06.003 ID - Baldini2018 ER - TY - JOUR AU - Mikosch, P. AU - Hughes, D. PY - 2010 DA - 2010// TI - An overview on bone manifestations in Gaucher disease JO - Wien Med Wochenschr VL - 160 UR - https://doi.org/10.1007/s10354-010-0841-y DO - 10.1007/s10354-010-0841-y ID - Mikosch2010 ER - TY - JOUR AU - Giuffrida, G. AU - Cingari, M. R. AU - Parrinello, N. AU - Romano, A. AU - Triolo, A. AU - Franceschino, M. PY - 2012 DA - 2012// TI - Bone turnover markers in patients with type 1 Gaucher disease JO - Hematol Rep VL - 4 UR - https://doi.org/10.4081/hr.2012.e21 DO - 10.4081/hr.2012.e21 ID - Giuffrida2012 ER - TY - JOUR AU - Vairo, F. AU - Sperb-Ludwig, F. AU - Wilke, M. AU - Michellin-Tirelli, K. AU - Netto, C. AU - Neto, E. C. PY - 2015 DA - 2015// TI - Osteopontin: a potential biomarker of Gaucher disease JO - Ann Hematol VL - 94 UR - https://doi.org/10.1007/s00277-015-2354-7 DO - 10.1007/s00277-015-2354-7 ID - Vairo2015 ER - TY - JOUR AU - Sultan, K. AU - Doğan, M. AU - Keziban, A. B. AU - Kaan, D. AU - Nihat, D. AU - Nesrin, C. PY - 2016 DA - 2016// TI - Association of Gaucher'd Disease with hypoparathyroidism: co-incidence or a novel association? JO - Mustafa Kemal Üniv Tıp Derg VL - 7 UR - https://doi.org/10.17944/mkutfd.41900 DO - 10.17944/mkutfd.41900 ID - Sultan2016 ER - TY - JOUR AU - Tofolean, D. AU - Adam, T. AU - Mazilu, L. AU - Parepa, I. -. R. PY - 2015 DA - 2015// TI - A case of late diagnosis of Gaucher disease with lung involvement (case study) JO - ARS Medica Tomitana VL - 2 UR - https://doi.org/10.1515/arsm-2015-0022 DO - 10.1515/arsm-2015-0022 ID - Tofolean2015 ER - TY - JOUR AU - Bischoff-Ferrari, H. A. PY - 2014 DA - 2014// TI - Optimal serum 25-hydroxyvitamin D levels for multiple health outcomes JO - Adv Exp Med Biol VL - 810 ID - Bischoff-Ferrari2014 ER - TY - JOUR AU - Kennel, K. A. AU - Drake, M. T. AU - Hurley, D. L. PY - 2010 DA - 2010// TI - Vitamin D deficiency in adults: when to test and how to treat JO - Mayo Clin Proc VL - 85 UR - https://doi.org/10.4065/mcp.2010.0138 DO - 10.4065/mcp.2010.0138 ID - Kennel2010 ER - TY - JOUR AU - Holick, M. F. PY - 2007 DA - 2007// TI - Vitamin D deficiency JO - N Engl J Med VL - 357 UR - https://doi.org/10.1056/NEJMra070553 DO - 10.1056/NEJMra070553 ID - Holick2007 ER - TY - JOUR AU - Spiro, A. AU - Buttriss, J. L. PY - 2014 DA - 2014// TI - Vitamin D: An overview of vitamin D status and intake in Europe JO - Nutr Bull VL - 39 UR - https://doi.org/10.1111/nbu.12108 DO - 10.1111/nbu.12108 ID - Spiro2014 ER - TY - JOUR AU - Mikosch, P. AU - Reed, M. AU - Stettner, H. AU - Baker, R. AU - Mehta, A. B. AU - Hughes, D. A. PY - 2009 DA - 2009// TI - Patients with Gaucher disease living in England show a high prevalence of vitamin D insufficiency with correlation to osteodensitometry JO - Mol Genet Metab VL - 96 UR - https://doi.org/10.1016/j.ymgme.2008.12.001 DO - 10.1016/j.ymgme.2008.12.001 ID - Mikosch2009 ER - TY - JOUR AU - Hypponen, E. AU - Power, C. PY - 2007 DA - 2007// TI - Hypovitaminosis D in British adults at age 45 y: nationwide cohort study of dietary and lifestyle predictors JO - Am J Clin Nutr VL - 85 UR - https://doi.org/10.1093/ajcn/85.3.860 DO - 10.1093/ajcn/85.3.860 ID - Hypponen2007 ER - TY - JOUR AU - Parisi, M. S. AU - Mastaglia, S. R. AU - Bagur, A. AU - Goldstein, G. AU - Zeni, S. N. AU - Oliveri, B. PY - 2008 DA - 2008// TI - Body composition and bone metabolism in young Gaucher disease type I patients treated with imiglucerase JO - Eur J Med Res VL - 13 ID - Parisi2008 ER - TY - JOUR AU - Ciana, G. AU - Addobbati, R. AU - Tamaro, G. AU - Leopaldi, A. AU - Nevyjel, M. AU - Ronfani, L. PY - 2005 DA - 2005// TI - Gaucher disease and bone: laboratory and skeletal mineral density variations during a long period of enzyme replacement therapy JO - J Inherit Metab Dis VL - 28 UR - https://doi.org/10.1007/s10545-005-0032-y DO - 10.1007/s10545-005-0032-y ID - Ciana2005 ER - TY - JOUR AU - Schiffmann, R. AU - Mankin, H. AU - Dambrosia, J. M. AU - Xavier, R. J. AU - Kreps, C. AU - Hill, S. C. PY - 2002 DA - 2002// TI - Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapy JO - Blood Cells Mol Dis VL - 28 UR - https://doi.org/10.1006/bcmd.2002.0517 DO - 10.1006/bcmd.2002.0517 ID - Schiffmann2002 ER - TY - JOUR AU - Biegstraaten, M. AU - Cox, T. M. AU - Belmatoug, N. AU - Berger, M. G. AU - Collin-Histed, T. AU - Vom Dahl, S. PY - 2018 DA - 2018// TI - Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease JO - Blood Cells Mol Dis VL - 68 UR - https://doi.org/10.1016/j.bcmd.2016.10.008 DO - 10.1016/j.bcmd.2016.10.008 ID - Biegstraaten2018 ER - TY - JOUR AU - Hughes, D. AU - Cappellini, M. D. AU - Berger, M. AU - Droogenbroeck, J. AU - Fost, M. AU - Janic, D. PY - 2007 DA - 2007// TI - Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease JO - Br J Haematol VL - 138 UR - https://doi.org/10.1111/j.1365-2141.2007.06701.x DO - 10.1111/j.1365-2141.2007.06701.x ID - Hughes2007 ER - TY - JOUR AU - Stirnemann, J. é. r. ô. m. e. AU - Belmatoug, N. a. d. i. a. AU - Camou, F. a. b. r. i. c. e. AU - Serratrice, C. h. r. i. s. t. i. n. e. AU - Froissart, R. o. s. e. l. i. n. e. AU - Caillaud, C. a. t. h. e. r. i. n. e. AU - Levade, T. h. i. e. r. r. y. AU - Astudillo, L. e. o. n. a. r. d. o. AU - Serratrice, J. a. c. q. u. e. s. AU - Brassier, A. n. a. ï. s. AU - Rose, C. h. r. i. s. t. i. a. n. AU - Billette de Villemeur, T. h. i. e. r. r. y. AU - Berger, M. a. r. c. PY - 2017 DA - 2017// TI - A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments JO - International Journal of Molecular Sciences VL - 18 UR - https://doi.org/10.3390/ijms18020441 DO - 10.3390/ijms18020441 ID - Stirnemann2017 ER - TY - JOUR AU - Rusinska, A. AU - Pludowski, P. AU - Walczak, M. AU - Borszewska-Kornacka, M. K. AU - Bossowski, A. AU - Chlebna-Sokol, D. PY - 2018 DA - 2018// TI - Vitamin D Supplementation Guidelines for General Population and Groups at Risk of Vitamin D Deficiency in Poland-Recommendations of the Polish Society of Pediatric Endocrinology and Diabetes and the Expert Panel With Participation of National Specialist Consultants and Representatives of Scientific Societies-2018 Update JO - Front Endocrinol (Lausanne) VL - 9 UR - https://doi.org/10.3389/fendo.2018.00246 DO - 10.3389/fendo.2018.00246 ID - Rusinska2018 ER - TY - JOUR AU - Hughes, D. AU - Mikosch, P. AU - Belmatoug, N. AU - Carubbi, F. AU - Cox, T. AU - Goker-Alpan, O. PY - 2019 DA - 2019// TI - Gaucher Disease in Bone: From Pathophysiology to Practice JO - J Bone Miner Res VL - 34 UR - https://doi.org/10.1002/jbmr.3734 DO - 10.1002/jbmr.3734 ID - Hughes2019 ER - TY - JOUR AU - Holick, M. F. AU - Binkley, N. C. AU - Bischoff-Ferrari, H. A. AU - Gordon, C. M. AU - Hanley, D. A. AU - Heaney, R. P. PY - 2011 DA - 2011// TI - Evaluation, treatment, and prevention of vitamin D deficiency: an Endocrine Society clinical practice guideline JO - J Clin Endocrinol Metab VL - 96 UR - https://doi.org/10.1210/jc.2011-0385 DO - 10.1210/jc.2011-0385 ID - Holick2011 ER - TY - JOUR AU - Zimmermann, A. AU - Popp, R. A. AU - Rossmann, H. AU - Bucerzan, S. AU - Nascu, I. AU - Leucuta, D. PY - 2018 DA - 2018// TI - Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1 JO - Ther Clin Risk Manag VL - 14 UR - https://doi.org/10.2147/TCRM.S177480 DO - 10.2147/TCRM.S177480 ID - Zimmermann2018 ER - TY - JOUR AU - Greenwood, A. AU - Elstein, D. AU - Zimran, A. AU - Altarescu, G. PY - 2010 DA - 2010// TI - Effect of vitamin D receptor (VDR) genotypes on the risk for osteoporosis in type 1 Gaucher disease JO - Clin Rheumatol VL - 29 UR - https://doi.org/10.1007/s10067-010-1464-9 DO - 10.1007/s10067-010-1464-9 ID - Greenwood2010 ER - TY - JOUR AU - Lieblich, M. AU - Altarescu, G. AU - Zimran, A. AU - Elstein, D. PY - 2011 DA - 2011// TI - Vitamin D Receptor (VDR) polymorphic variants in patients with cancer and Gaucher disease JO - Blood Cells Mol Dis VL - 46 UR - https://doi.org/10.1016/j.bcmd.2010.09.002 DO - 10.1016/j.bcmd.2010.09.002 ID - Lieblich2011 ER -