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Published in: Italian Journal of Pediatrics 1/2010

Open Access 01-12-2010 | Research

Current themes in molecular pediatrics: molecular medicine and its applications

Authors: Andrea Superti-Furga, Livia Garavelli

Published in: Italian Journal of Pediatrics | Issue 1/2010

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Abstract

We focus on themes that are derived from clinical practice and research in the field of genetic diseases of bone and inborn errors of metabolism but may be of more general interest as they indicate some trends in molecular medicine as related to pediatrics. Identifying the disease-causing mechanism brings about efficient therapeutic strategies and discovering the mutant genotype in the near future may become helpful for devising custom-built molecular responses. At the same time, the transition of therapy from the experimental phase to industrial application is difficult as there may be novel roles (and potentially conflicting interests) between physicians, patient organisations, governmental agencies and the pharmaceutical industry. Awareness of these potential conflicts may help in recognizing and dealing with these issues.
Literature
1.
go back to reference Hall CM: International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet. 2002, 113 (1): 65-77. 10.1002/ajmg.10828.PubMedCrossRef Hall CM: International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet. 2002, 113 (1): 65-77. 10.1002/ajmg.10828.PubMedCrossRef
2.
go back to reference Superti-Furga A, Bonafe L, Rimoin DL: Molecular-pathogenetic classification of genetic disorders of the skeleton. Am J Med Genet. 2001, 106 (4): 282-93. 10.1002/ajmg.10233.PubMedCrossRef Superti-Furga A, Bonafe L, Rimoin DL: Molecular-pathogenetic classification of genetic disorders of the skeleton. Am J Med Genet. 2001, 106 (4): 282-93. 10.1002/ajmg.10233.PubMedCrossRef
3.
go back to reference Superti-Furga A, Unger S: Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A. 2007, 143 (1): 1-18.CrossRef Superti-Furga A, Unger S: Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A. 2007, 143 (1): 1-18.CrossRef
4.
go back to reference Nishimura G, Haga N, Kitoh H, Tanaka Y, Sonoda T, Kitamura M, Shirahama S, Itoh T, Nakashima E, Ohashi H, Ikegawa S: The phenotypic spectrum of COL2A1 mutations. Hum Mutat. 2005, 26 (1): 36-43. 10.1002/humu.20179.PubMedCrossRef Nishimura G, Haga N, Kitoh H, Tanaka Y, Sonoda T, Kitamura M, Shirahama S, Itoh T, Nakashima E, Ohashi H, Ikegawa S: The phenotypic spectrum of COL2A1 mutations. Hum Mutat. 2005, 26 (1): 36-43. 10.1002/humu.20179.PubMedCrossRef
5.
go back to reference Rossi A, Superti-Furga A: Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat. 2001, 17 (3): 159-71. 10.1002/humu.1.PubMedCrossRef Rossi A, Superti-Furga A: Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat. 2001, 17 (3): 159-71. 10.1002/humu.1.PubMedCrossRef
6.
go back to reference Robertson SP: Filamin A: phenotypic diversity. Curr Opin Genet Dev. 2005, 15 (3): 301-7. 10.1016/j.gde.2005.04.001.PubMedCrossRef Robertson SP: Filamin A: phenotypic diversity. Curr Opin Genet Dev. 2005, 15 (3): 301-7. 10.1016/j.gde.2005.04.001.PubMedCrossRef
7.
go back to reference Wilkie AO: Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations. Cytokine Growth Factor Rev. 2005, 16 (2): 187-203. 10.1016/j.cytogfr.2005.03.001.PubMedCrossRef Wilkie AO: Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations. Cytokine Growth Factor Rev. 2005, 16 (2): 187-203. 10.1016/j.cytogfr.2005.03.001.PubMedCrossRef
8.
go back to reference Tolar J, Teitelbaum SL, Orchard PJ: Osteopetrosis. N Engl J Med. 2004, 351 (27): 2839-49. 10.1056/NEJMra040952.PubMedCrossRef Tolar J, Teitelbaum SL, Orchard PJ: Osteopetrosis. N Engl J Med. 2004, 351 (27): 2839-49. 10.1056/NEJMra040952.PubMedCrossRef
9.
go back to reference Van Wesenbeeck L, Van Hul W: Lessons from osteopetrotic mutations in animals: impact on our current understanding of osteoclast biology. Crit Rev Eukaryot Gene Expr. 2005, 15 (2): 133-62. 10.1615/CritRevEukaryotGeneExpr.v15.i2.40.PubMedCrossRef Van Wesenbeeck L, Van Hul W: Lessons from osteopetrotic mutations in animals: impact on our current understanding of osteoclast biology. Crit Rev Eukaryot Gene Expr. 2005, 15 (2): 133-62. 10.1615/CritRevEukaryotGeneExpr.v15.i2.40.PubMedCrossRef
10.
go back to reference Yasoda A, Komatsu Y, Chusho H, Miyazawa T, Ozasa A, Miura M, Kurihara T, Rogi T, Tanaka S, Suda M, Tamura N, Ogawa Y, Nakao K: Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. Nat Med. 2004, 10 (1): 80-6. 10.1038/nm971.PubMedCrossRef Yasoda A, Komatsu Y, Chusho H, Miyazawa T, Ozasa A, Miura M, Kurihara T, Rogi T, Tanaka S, Suda M, Tamura N, Ogawa Y, Nakao K: Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. Nat Med. 2004, 10 (1): 80-6. 10.1038/nm971.PubMedCrossRef
11.
go back to reference Yu X, White KE: FGF23 and disorders of phosphate homeostasis. Cytokine Growth Factor Rev. 2005, 16 (2): 221-32. 10.1016/j.cytogfr.2005.01.002.PubMedCrossRef Yu X, White KE: FGF23 and disorders of phosphate homeostasis. Cytokine Growth Factor Rev. 2005, 16 (2): 221-32. 10.1016/j.cytogfr.2005.01.002.PubMedCrossRef
13.
go back to reference Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys BL, Cooper TK, Myers L, Klein EC, Liu G, Calvi C, Podowski M, Neptune ER, Halushka MK, Bedja D, Gabrielson K, Rifkin DB, Carta L, Ramirez F, Huso DL, Dietz HC: Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006, 312 (5770): 117-121. 10.1126/science.1124287.PubMedCentralPubMedCrossRef Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys BL, Cooper TK, Myers L, Klein EC, Liu G, Calvi C, Podowski M, Neptune ER, Halushka MK, Bedja D, Gabrielson K, Rifkin DB, Carta L, Ramirez F, Huso DL, Dietz HC: Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006, 312 (5770): 117-121. 10.1126/science.1124287.PubMedCentralPubMedCrossRef
14.
go back to reference Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC: Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med. 2008, 358 (26): 2787-95. 10.1056/NEJMoa0706585.PubMedCentralPubMedCrossRef Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC: Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med. 2008, 358 (26): 2787-95. 10.1056/NEJMoa0706585.PubMedCentralPubMedCrossRef
15.
go back to reference Worman HJ, Fong LG, Muchir A, Young SG: Laminopathies and the long strange trip from basic cell biology to therapy. J Clin Invest. 2009, 119 (7): 1825-36. 10.1172/JCI37679.PubMedCentralPubMedCrossRef Worman HJ, Fong LG, Muchir A, Young SG: Laminopathies and the long strange trip from basic cell biology to therapy. J Clin Invest. 2009, 119 (7): 1825-36. 10.1172/JCI37679.PubMedCentralPubMedCrossRef
16.
go back to reference Yang SH, Chang SY, Andres DA, Spielmann HP, Young SG, Fong LG: Assessing the efficacy of protein farnesyltransferase inhibitors in mouse models of progeria. J Lipid Res. 2009, Yang SH, Chang SY, Andres DA, Spielmann HP, Young SG, Fong LG: Assessing the efficacy of protein farnesyltransferase inhibitors in mouse models of progeria. J Lipid Res. 2009,
17.
go back to reference Forlino A, Piazza R, Tiveron C, Della Torre S, Tatangelo L, Bonafe L, Gualeni B, Romano A, Pecora F, Superti-Furga A, Cetta G, Rossi A: A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. Hum Mol Genet. 2005, 14 (6): 859-71. 10.1093/hmg/ddi079.PubMedCrossRef Forlino A, Piazza R, Tiveron C, Della Torre S, Tatangelo L, Bonafe L, Gualeni B, Romano A, Pecora F, Superti-Furga A, Cetta G, Rossi A: A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. Hum Mol Genet. 2005, 14 (6): 859-71. 10.1093/hmg/ddi079.PubMedCrossRef
18.
go back to reference Ai M, Holmen SL, Van Hul W, Williams BO, Warman ML: Reduced affinity to and inhibition by DKK1 form a common mechanism by which high bone massassociated missense mutations in LRP5 affect canonical Wnt signaling. Mol Cell Biol. 2005, 25 (12): 4946-55. 10.1128/MCB.25.12.4946-4955.2005.PubMedCentralPubMedCrossRef Ai M, Holmen SL, Van Hul W, Williams BO, Warman ML: Reduced affinity to and inhibition by DKK1 form a common mechanism by which high bone massassociated missense mutations in LRP5 affect canonical Wnt signaling. Mol Cell Biol. 2005, 25 (12): 4946-55. 10.1128/MCB.25.12.4946-4955.2005.PubMedCentralPubMedCrossRef
19.
go back to reference Huang P, Zhao XS, Fields M, Ransohoff RM, Zhou L: Imatinib attenuates skeletal muscle dystrophy in mdx mice. FASEB J. 2009, 23 (8): 2539-48. 10.1096/fj.09-129833.PubMedCentralPubMedCrossRef Huang P, Zhao XS, Fields M, Ransohoff RM, Zhou L: Imatinib attenuates skeletal muscle dystrophy in mdx mice. FASEB J. 2009, 23 (8): 2539-48. 10.1096/fj.09-129833.PubMedCentralPubMedCrossRef
20.
go back to reference Chandran S, Petersen J, Jacobs C, Fiorentino D, Doeden K, Lafayette RA: Imatinib in the treatment of nephrogenic systemic fibrosis. Am J Kidney Dis. 2009, 53 (1): 129-32. 10.1053/j.ajkd.2008.08.029.PubMedCrossRef Chandran S, Petersen J, Jacobs C, Fiorentino D, Doeden K, Lafayette RA: Imatinib in the treatment of nephrogenic systemic fibrosis. Am J Kidney Dis. 2009, 53 (1): 129-32. 10.1053/j.ajkd.2008.08.029.PubMedCrossRef
21.
go back to reference Egan ME, Pearson M, Weiner SA, Rajendran V, Rubin D, Glockner-Pagel J, Canny S, Du K, Lukacs GL, Caplan MJ: Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects. Science. 2004, 304 (5670): 600-2. 10.1126/science.1093941.PubMedCrossRef Egan ME, Pearson M, Weiner SA, Rajendran V, Rubin D, Glockner-Pagel J, Canny S, Du K, Lukacs GL, Caplan MJ: Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects. Science. 2004, 304 (5670): 600-2. 10.1126/science.1093941.PubMedCrossRef
22.
go back to reference Frustaci A, Chimenti C, Ricci R, Natale L, Russo MA, Pieroni M, Eng CM, Desnick RJ: Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl J Med. 2001, 345 (1): 25-32. 10.1056/NEJM200107053450104.PubMedCrossRef Frustaci A, Chimenti C, Ricci R, Natale L, Russo MA, Pieroni M, Eng CM, Desnick RJ: Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl J Med. 2001, 345 (1): 25-32. 10.1056/NEJM200107053450104.PubMedCrossRef
23.
go back to reference Matsuda J, Suzuki O, Oshima A, Yamamoto Y, Noguchi A, Takimoto K, Itoh M, Matsuzaki Y, Yasuda Y, Ogawa S, Sakata Y, Nanba E, Higaki K, Ogawa Y, Tominaga L, Ohno K, Iwasaki H, Watanabe H, Brady RO, Suzuki Y: Chemical chaperone therapy for brain pathology in GM1-gangliosidosis. Proc Natl Acad Sci USA. 2003, 100 (26): 15912-7. 10.1073/pnas.2536657100.PubMedCentralPubMedCrossRef Matsuda J, Suzuki O, Oshima A, Yamamoto Y, Noguchi A, Takimoto K, Itoh M, Matsuzaki Y, Yasuda Y, Ogawa S, Sakata Y, Nanba E, Higaki K, Ogawa Y, Tominaga L, Ohno K, Iwasaki H, Watanabe H, Brady RO, Suzuki Y: Chemical chaperone therapy for brain pathology in GM1-gangliosidosis. Proc Natl Acad Sci USA. 2003, 100 (26): 15912-7. 10.1073/pnas.2536657100.PubMedCentralPubMedCrossRef
24.
go back to reference Muntau AC, Roschinger W, Habich M, Demmelmair H, Hoffmann B, Sommerhoff CP, Roscher AA: Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med. 2002, 347 (26): 2122-32. 10.1056/NEJMoa021654.PubMedCrossRef Muntau AC, Roschinger W, Habich M, Demmelmair H, Hoffmann B, Sommerhoff CP, Roscher AA: Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med. 2002, 347 (26): 2122-32. 10.1056/NEJMoa021654.PubMedCrossRef
25.
go back to reference Mendell JT, Dietz HC: When the message goes awry: disease-producing mutations that influence mRNA content and performance. Cell. 2001, 107 (4): 411-414. 10.1016/S0092-8674(01)00583-9.PubMedCrossRef Mendell JT, Dietz HC: When the message goes awry: disease-producing mutations that influence mRNA content and performance. Cell. 2001, 107 (4): 411-414. 10.1016/S0092-8674(01)00583-9.PubMedCrossRef
26.
go back to reference Ramalho AS, Beck S, Meyer M, Penque D, Cutting GR, Amaral MD: Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis. Am J Respir Cell Mol Cell Biol. 2002, 27 (5): 619-627.CrossRef Ramalho AS, Beck S, Meyer M, Penque D, Cutting GR, Amaral MD: Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis. Am J Respir Cell Mol Cell Biol. 2002, 27 (5): 619-627.CrossRef
27.
go back to reference Kerem E: Pharmacologic therapy for stop mutations: how much CFTR activity is enough?. Curr Opin Pulm Med. 2004, 10 (6): 547-552. 10.1097/01.mcp.0000141247.22078.46.PubMedCrossRef Kerem E: Pharmacologic therapy for stop mutations: how much CFTR activity is enough?. Curr Opin Pulm Med. 2004, 10 (6): 547-552. 10.1097/01.mcp.0000141247.22078.46.PubMedCrossRef
28.
go back to reference Welch EM, Barton EP, Zhuo J, Tomizawa Y, Friedsen WJ, Trifillis P, Paushkin S, Patel M, Trotta CR, Hwang S, Wilde RG, Karp G, Takasugi J, Chen G, Jones S, Ren H, Moon YC, Corson D, Turpoff AA, Campbell JA, Conn MM, Khan A, Almstead NG, Hedrick G, Mollin A, Risher N, Weetall M, Yeh S, Branstrom AA, Colacino JM, Babiak J, Ju WD, Hirawat S, Northcutt VJ, Miller LL, Spatrick P, He F, Kawana M, Feng H, Jacobson A, Peltz SW, Sweeney HL: PTC 124 targets genetic disorders caused by nonsense mutations. Nature. 2007, 447 (3): 87-91. 10.1038/nature05756.PubMedCrossRef Welch EM, Barton EP, Zhuo J, Tomizawa Y, Friedsen WJ, Trifillis P, Paushkin S, Patel M, Trotta CR, Hwang S, Wilde RG, Karp G, Takasugi J, Chen G, Jones S, Ren H, Moon YC, Corson D, Turpoff AA, Campbell JA, Conn MM, Khan A, Almstead NG, Hedrick G, Mollin A, Risher N, Weetall M, Yeh S, Branstrom AA, Colacino JM, Babiak J, Ju WD, Hirawat S, Northcutt VJ, Miller LL, Spatrick P, He F, Kawana M, Feng H, Jacobson A, Peltz SW, Sweeney HL: PTC 124 targets genetic disorders caused by nonsense mutations. Nature. 2007, 447 (3): 87-91. 10.1038/nature05756.PubMedCrossRef
29.
go back to reference Tarpey PS, Raymond FL, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, Smith R, Shoubridge C, Edkins S, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Raine K, Moon J, Luo Y, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gécz J: Mutations in UPF3B, a member of the non-sense mediated mRNA decay complex cause syndromic and non syndromic mental retardation. Nature Genetics. 2007, 39 (9): 1127-1133. 10.1038/ng2100.PubMedCentralPubMedCrossRef Tarpey PS, Raymond FL, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, Smith R, Shoubridge C, Edkins S, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Raine K, Moon J, Luo Y, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gécz J: Mutations in UPF3B, a member of the non-sense mediated mRNA decay complex cause syndromic and non syndromic mental retardation. Nature Genetics. 2007, 39 (9): 1127-1133. 10.1038/ng2100.PubMedCentralPubMedCrossRef
30.
go back to reference Van Deutekom JC, Janson AA, Ginjaar IB, Frankhuizen WS, Aartsma-Rus A, Bremmer-Bout M, den Dunnen JT, Koop K, Kooi van der AJ, Goemans NM, de Kimpe SJ, Ekhart PF, Venneker EH, Platenburg GJ, Verschuuren JJ, van Ommen GJB: Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med. 2007, 357 (26): 2677-2686. 10.1056/NEJMoa073108.PubMedCrossRef Van Deutekom JC, Janson AA, Ginjaar IB, Frankhuizen WS, Aartsma-Rus A, Bremmer-Bout M, den Dunnen JT, Koop K, Kooi van der AJ, Goemans NM, de Kimpe SJ, Ekhart PF, Venneker EH, Platenburg GJ, Verschuuren JJ, van Ommen GJB: Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med. 2007, 357 (26): 2677-2686. 10.1056/NEJMoa073108.PubMedCrossRef
32.
go back to reference Grompe M: The role of bone marrow stem cells in liver regeneration. Semin Liver Dis. 2003, 23 (4): 363-72. 10.1055/s-2004-815560.PubMedCrossRef Grompe M: The role of bone marrow stem cells in liver regeneration. Semin Liver Dis. 2003, 23 (4): 363-72. 10.1055/s-2004-815560.PubMedCrossRef
33.
go back to reference Grompe M: Bone marrow-derived hepatocytes. Novartis Found Symp. 2005, 265: 20-7. full_text. discussion 28-34, 92-7PubMedCrossRef Grompe M: Bone marrow-derived hepatocytes. Novartis Found Symp. 2005, 265: 20-7. full_text. discussion 28-34, 92-7PubMedCrossRef
34.
go back to reference Willenbring H, Bailey AS, Foster M, Akkari Y, Dorrell C, Olson S, Finegold M, Fleming WH, Grompe M: Myelomonocytic cells are sufficient for therapeutic cell fusion in liver. Nat Med. 2004, 10 (7): 744-8. 10.1038/nm1062.PubMedCrossRef Willenbring H, Bailey AS, Foster M, Akkari Y, Dorrell C, Olson S, Finegold M, Fleming WH, Grompe M: Myelomonocytic cells are sufficient for therapeutic cell fusion in liver. Nat Med. 2004, 10 (7): 744-8. 10.1038/nm1062.PubMedCrossRef
35.
go back to reference Held PK, Al-Dhalimy M, Willenbring H, Akkari Y, Jiang S, Torimaru Y, Olson S, Fleming WH, Finegold M, Grompe M: In vivo genetic selection of renal proximal tubules. Mol Ther. 2006, 13 (1): 49-58. 10.1016/j.ymthe.2005.09.004.PubMedCrossRef Held PK, Al-Dhalimy M, Willenbring H, Akkari Y, Jiang S, Torimaru Y, Olson S, Fleming WH, Finegold M, Grompe M: In vivo genetic selection of renal proximal tubules. Mol Ther. 2006, 13 (1): 49-58. 10.1016/j.ymthe.2005.09.004.PubMedCrossRef
36.
go back to reference Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE, Grewald RP, Ti Yu K: Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med. 1991, 324 (21): 1464-70.PubMedCrossRef Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE, Grewald RP, Ti Yu K: Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med. 1991, 324 (21): 1464-70.PubMedCrossRef
39.
go back to reference Garber AM, Clarke AE, Goldman DP, Gluck ME: Federal and Private Roles in the Development and Provision of Alglucerase Therapy for Gaucher Disease. 1992, Washington, DC: U. S. Office of Technology Assessment, OTA-BP-H-104; NTIS order #PB93-101723 Garber AM, Clarke AE, Goldman DP, Gluck ME: Federal and Private Roles in the Development and Provision of Alglucerase Therapy for Gaucher Disease. 1992, Washington, DC: U. S. Office of Technology Assessment, OTA-BP-H-104; NTIS order #PB93-101723
40.
go back to reference Clarke JT, Amato D, Deber RB: Managing public payment for high-cost, high-benefit treatment: enzyme replacement therapy for Gaucher's disease in Ontario. Can Med Assoc J. 2001, 165 (5): 595-6. Clarke JT, Amato D, Deber RB: Managing public payment for high-cost, high-benefit treatment: enzyme replacement therapy for Gaucher's disease in Ontario. Can Med Assoc J. 2001, 165 (5): 595-6.
Metadata
Title
Current themes in molecular pediatrics: molecular medicine and its applications
Authors
Andrea Superti-Furga
Livia Garavelli
Publication date
01-12-2010
Publisher
BioMed Central
Published in
Italian Journal of Pediatrics / Issue 1/2010
Electronic ISSN: 1824-7288
DOI
https://doi.org/10.1186/1824-7288-36-20

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