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1132           Part VIII:  Monocytes and Macrophages                                                                                              Chapter 72:  Gaucher Disease and Related Lysosomal Storage Diseases            1133




                 97.  Shoenfeld Y, Beresovski A, Zharhary D, et al: Natural autoantibodies in sera of patients     127. Weinreb NJ, Aggio MC, Andersson HC, et al; International Collaborative Gaucher
                  with Gaucher’s disease. J Clin Immunol 15:363, 1995.   Group (ICGG): Gaucher disease type 1: Revised recommendations on evaluations and
                 98.  Hollak CE, van Weely S, van Oers MH, Aerts JM: Marked elevation of plasma chitotri-  monitoring for adult patients. Semin Hematol 41:15, 2004.
                  osidase activity. A novel hallmark of Gaucher disease. J Clin Invest 93:1288, 1994.    128. Sidransky E, Pastores GM, Mori M: Dosing enzyme replacement therapy for Gaucher
                 99.  Boot RG, Verhoek M, de Fost M: Marked elevation of the chemokine CCL18/PARC   disease: Older, but are we wiser? Genet Med 11:90, 2009.
                  in Gaucher disease: A novel surrogate marker for assessing therapeutic intervention.     129. Zimran A, Ilan Y, Elstein D: Enzyme replacement therapy for mild patients with
                  Blood 103:33, 2004.                                    Gaucher disease. Am J Hematol 84:202, 2009.
                 100. Rolfs A, Giese AK, Grittner U, et al: Glucosylsphingosine is a highly sensitive and spe-    130. Cox T, Lachmann R, Hollak C, et al: Novel oral treatment of Gaucher’s disease with
                  cific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in   N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.  Lancet
                  a non-Jewish, Caucasian cohort of Gaucher disease patients. PLoS One 8:e79732, 2013.  355:1481, 2000.
                 101. Gielchinsky Y, Elstein D, Green R: High prevalence of low serum vitamin B12 in a     131. Radin NS: Chemical models and chemotherapy in the sphingolipidoses, in Current
                  multi-ethnic Israeli population. Br J Haematol 115:707, 2001.  Trends in Sphingolipidoses and Allied Disorders, edited by Volk BW, Schneck L, p 453.
                 102. Mikosch P, Reed M, Stettner H, et al: Patients with Gaucher disease living in England   Plenum Press, New York, 1976.
                  show a high prevalence of vitamin D insufficiency with correlation to osteodensitome-    132. Heitner R, Elstein D, Aerts J, et al: Low-dose N-butyldeoxynojirimycin (OGT 918) for
                  try. Mol Genet Metab 96:113, 2009.                     type I Gaucher disease. Blood Cells Mol Dis 28:127, 2003.
                 103. Beutler E, Kuhl W: The diagnosis of the adult type of Gaucher’s disease and its carrier     133. Elstein D, Dweck A, Attias D, et al: Oral maintenance clinical trial with miglustat for
                  state by demonstration of deficiency of beta-glucosidase activity in peripheral blood   type I Gaucher disease: Switch from or combination with intravenous enzyme replace-
                  leukocytes. J Lab Clin Med 76:747, 1970.               ment. Blood 110:2296, 2007.
                 104. Rudensky B, Paz E, Altarescu G, Raveh D et al: Fluorescent flow cytometric assay: A     134. Lukina E, Watman N, Arreguin EA, et al: A phase 2 study of eliglustat tartrate (Genz-
                  new diagnostic tool for measuring beta-glucocerebrosidase activity in Gaucher disease.   112638), an oral substrate reduction therapy for Gaucher disease type 1. Blood 116:893,
                  Blood Cells Mol Dis 30:97, 2003.                       2010.
                 105. Beutler E, Saven A: Misuse of marrow examination in the diagnosis of Gaucher disease.     135. Lukina E, Watman N, Arreguin EA, et al: Improvement in hematological, visceral, and
                  Blood 76:646, 1990.                                    skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-
                 106. Zhang CK, Stein PB, Liu J, et al: Genome-wide association study of N370S homozygous   112638) treatment: 2-year results of a phase 2 study. Blood 116:4095, 2010.
                  Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing     136. Lukina E, Watman N, Dragosky M, et al: Eliglustat, an investigational oral therapy for
                  to extreme phenotypic variation. Am J Hematol 87:377, 2012.  Gaucher disease type 1: Phase 2 trial results after 4 years of treatment. Blood Cells Mol
                 107. Lun FM, Tsui NB, Chan KC, et al: Noninvasive prenatal diagnosis of monogenic dis-  Dis 53:274, 2014.
                  eases by digital size selection and relative mutation dosage on DNA in maternal plasma.     137. Fan JQ: A contradictory treatment for lysosomal storage disorders: Inhibitors enhance
                  Proc Natl Acad Sci U S A 105:19920-5, 2008.            mutant enzyme activity. Trends Pharmacol Sci 24:355, 2003.
                 108. Itzchaki M, Lebel E, Dweck A, et al: Orthopedic considerations in Gaucher disease     138. Ron I, Horowitz M: ER retention and degradation as the molecular basis underlying
                  since the advent of enzyme replacement therapy. Acta Orthop Scand 75:641, 2004.  Gaucher disease heterogeneity. Mol Genet Metab 93:426, 2008.
                 109. Wenstrup RJ, Bailey L, Grabowski GA, et al: Gaucher disease: Alendronate disodium     139. Sun Y, Liou B, Xu YH, et al: Ex vivo and in vivo effects of isofagomine on acid
                  improves bone mineral density in adults receiving enzyme therapy. Blood 104:1253,   β-glucosidase variants and substrate levels in Gaucher disease. J Biol Chem 287:4275,
                  2004.                                                  2012.
                 110. Rodgers GP, Lessin LS: Recombinant erythropoietin improves the anemia associated     140. Goker-Alpan O: Commentary on “Pilot study using ambroxol as a pharmacological
                  with Gaucher’s disease. Blood 73:2228, 1989.           chaperone in type 1 Gaucher disease” by Zimran et al. Blood Cells Mol Dis 50:138, 2013.
                 111. Grabowski GA, Barton NW, Pastores G, et al: Enzyme therapy in type 1 Gaucher dis-    141. Zimran A, Altarescu G, Elstein D: Pilot study using ambroxol as a pharmacological
                  ease: Comparative efficacy of mannose-terminated glucocerebrosidase from natural   chaperone in type 1 Gaucher disease. Blood Cells Mol Dis 50:134, 2013.
                  and recombinant sources. Ann Intern Med 122:33, 1995.    142. Ayto RM, Hughes DA, Jeevaratnam P, et al: Long-term outcomes of liver transplanta-
                 112. Zimran A, Altarescu G, Phillips M, et al: Phase I/II and extension study of velaglucerase   tion in type 1 Gaucher disease. Am J Transplant 10:1934, 2010.
                  alfa (Gene-Activated  Human Glucocerebrosidase) replacement therapy in adults     143. Mistry P, Zimran A: Type I Gaucher disease—Clinical features, in Gaucher Disease,
                              TM
                  with type 1 Gaucher disease: 48 Month experience. Blood 115:4651, 2010.  edited by Futerman AH, Zimran A, p 155. CRC Press, Boca Raton, FL, 2007.
                 113. Zimran A, Brill-Almon E, Chertkoff R, et al: Pivotal trial with plant-cell-expressed     144. Taddei TH, Kacena KA, Yang M, et al: The underrecognized progressive nature of
                  recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement ther-  N370S Gaucher disease and assessment of cancer risk in 403 patients. Am J Hematol
                  apy for Gaucher disease. Blood 118:5767, 2011.         84:208, 2009.
                 114. Weinreb NJ, Charrow J, Andersson HC, et al: Effectiveness of enzyme replacement     145. Weinreb NJ, Deegan P, Kacena KA, et al: Life expectancy in Gaucher disease type 1. Am
                  therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A   J Hematol 83:896, 2008.
                  report from the Gaucher Registry. Am J Med 113:112, 2002.    146. Niemann A: Ein unbekanntes Krankheitsbild. Jahrbuch Kinderheilkunde 79:1, 1914.
                 115. Zimran A, Bembi B, Pastores G: Enzyme replacement therapy for type I Gaucher dis-    147. Pick L: Uber die lipoidzellige Splenhepatomegalie Typus Niemann-Pick als Stoffwech-
                  ease, in Gaucher Disease, edited by Futerman AH, Zimran A, p 341. CRC Press, Boca   selerkrankung. Med Klin 23:1483, 1927.
                  Raton, FL, 2007.                                      148. Brady RO, Kanfer JN, Mock MB, et al: The metabolism of sphingomyelin II. Evidence
                 116. Grabowski GA, Kacena K, Cole JA, et al: Dose-response relationships for enzyme   of an enzymatic deficiency in Niemann-Pick disease. Proc Natl Acad Sci U S A 55:366,
                  replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease   1966.
                  type 1. Genet Med 11:92, 2009.                        149. Schuchman EH, Desnick RJ: Niemann-Pick disease types A and B: Acid sphingomyeli-
                 117. Maas M, Hollak CE, Akkerman EM, et al: Quantification of skeletal involvement in   nase deficiencies, in The Metabolic and Molecular Bases of Inherited Disease, 7th ed, edited
                  adults with type I Gaucher’s disease: Fat fraction measured by Dixon quantitative   by Scriver CR, Beaudet AL, Sly WS, Valle D, p 2601. McGraw-Hill, New York, 1995.
                  chemical shift imaging as a valid parameter. AJR Am J Roentgenol 179:961, 2002.    150. Pentchev PG, Vanier MT, Suzuki K, et al: Niemann-Pick disease type C: A cellular choles-
                 118. Altarescu G, Hill S, Wiggs E, et al: The efficacy of enzyme replacement therapy in   terol lipidosis, in The Metabolic and Molecular Bases of Inherited Disease, 7th ed, edited by
                  patients with chronic neuronopathic Gaucher’s disease. J Pediatr 138:539, 2001.  Scriver CR, Beaudet AL, Sly WS, Valle D, p 2625. McGraw-Hill, New York, 1995.
                 119. Zimran A, Elstein D: No justification for very high-dose enzyme therapy for patients     151. Greer WL, Riddell DC, Murty S, et al: Linkage disequilibrium mapping of the Nova
                  with type III Gaucher disease. J Inherit Metab Dis 30:843, 2007.  Scotia variant of Niemann-Pick disease. Clin Genet 55:248, 1999.
                 120. Starzyk K, Richards S, Yee J, et al: The long-term international safety experience of     152. Schuchman EH, Miranda SR: Niemann-Pick disease: Mutation update, genotype/phe-
                  imiglucerase therapy for Gaucher disease. Mol Genet Metab 90:157, 2007.  notype correlations, and prospects for genetic testing. Genet Test 1:13, 1997.
                 121. Langeveld M, de Fost M, Aerts JM, et al: Overweight, insulin resistance and type II     153. Simonaro CM, Desnick RJ, McGovern MM, et al: The demographics and distribution
                  diabetes in type I Gaucher disease patients in relation to enzyme replacement therapy.   of type B Niemann-Pick disease: Novel mutations lead to new genotype/phenotype cor-
                  Blood Cells Mol Dis 40:428, 2008.                      relations. Am J Hum Genet 71:1413, 2002.
                 122. Zimran A, Hollak CEM, Abrahamov A, et al: Home treatment with intravenous     154. Wenger DA, Barth G, Githens JH: Nine cases of sphingomyelin lipidosis, a new variant
                  enzyme replacement therapy for Gaucher disease: An international collaborative study   in Spanish-American children. Juvenile variant of Niemann-Pick Disease with foamy
                  of 33 patients. Blood 82:1107, 1993.                   and sea-blue histiocytes. Am J Dis Child 131:955, 1977.
                 123. Granovsky-Grisaru S, Belmatoug N, vom Dahl S, et al: The management of pregnancy     155. Millat G, Marçais C, Rafi MA, et al: Niemann-Pick C1 disease: The I1061T substitution
                  in Gaucher disease. Eur J Obstet Gynecol Reprod Biol 156:3, 2011.  is a frequent mutant allele in patients of Western European descent and correlates with
                 124. Elstein D, Hughes D, Goker-Alpan O, et al: Outcome of pregnancies in women receiv-  a classic juvenile phenotype. Am J Hum Genet 65:1321, 1999.
                  ing velaglucerase alfa for Gaucher disease. J Obstet Gynaecol Res 40:968, 2014.    156. Patterson MC, Vanier MT, Suzuki K, et al: Niemann-Pick disease type C: A lipid traf-
                 125. Zimran A, Pastores GM, Tylki-Szymanska A, et al: Safety and efficacy of velaglucerase   ficking disorder, in The Metabolic and Molecular Bases of Inherited Disease, 8th ed,
                  alfa in Gaucher disease type 1 patients previously treated with imiglucerase.  Am  J   edited by Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B,
                  Hematol 88:172, 2013.                                  p 3611. McGraw-Hill, New York, 2001.
                 126.  Pastores GM, Petakov M, Giraldo P, et al: A Phase 3, multicenter, open-label, switchover     157. Takahashi T, Suchi M, Desnick RJ, et al: Identification and expression of five mutations
                  trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombi-  in the human acid sphingomyelinase gene causing types A and B Niemann-Pick dis-
                  nant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease pre-  ease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neu-
                  viously treated with imiglucerase. Blood Cells Mol Dis 2014 Jun 17 [Epub ahead of print]  ronopathic forms. J Biol Chem 267:12552, 1992.







          Kaushansky_chapter 72_p1121-1134.indd   1132                                                                  9/17/15   3:53 PM
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