Overview of the mucopolysaccharidoses

Rheumatology - Tập 50 Số suppl 5 - Trang v4-v12 - 2011
Joseph Muenzer1
1Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

Tóm tắt

Từ khóa


Tài liệu tham khảo

Tomatsu, 2005, Journal of inherited metabolic disease, 28, 187, 10.1007/s10545-005-5673-3

Tomatsu, 2005, Journal of inherited metabolic disease, 28, 743, 10.1007/s10545-005-0069-y

Federico, 1981, Journal of neurology, 225, 77, 10.1007/BF00313321

Munoz-Rojas, 2008, American journal of medical genetics. Part A, 146A, 2538, 10.1002/ajmg.a.32294

Tuschl, 2005, Pediatric neurology, 32, 270, 10.1016/j.pediatrneurol.2004.10.009

Sukegawa, 1998, Clinical genetics, 53, 96, 10.1111/j.1399-0004.1998.tb02654.x

2000, Journal of Medical Genetics, 37, E29, 10.1136/jmg.37.10.e29

McGill, 2010, Clinical genetics, 77, 492, 10.1111/j.1399-0004.2009.01324.x

Schulze-Frenking, 2011, Journal of inherited metabolic disease, 34, 203, 10.1007/s10545-010-9215-2

Vijay, 2005, Acta paediatrica (Oslo, Norway : 1992), 94, 872, 10.1080/08035250510031584

Chamoles, 2001, Clinical Chemistry, 47, 780, 10.1093/clinchem/47.4.780

Gelb, 2006, Journal of inherited metabolic disease, 29, 397, 10.1007/s10545-006-0265-4

Meikle, 2006, Molecular genetics and metabolism, 88, 307, 10.1016/j.ymgme.2006.02.013

Baehner, 2005, Journal of inherited metabolic disease, 28, 1011, 10.1007/s10545-005-0112-z

Poorthuis, 1999, Human genetics, 105, 151, 10.1007/s004399900075

Meikle, 1999, JAMA, 281, 249, 10.1001/jama.281.3.249

Nelson, 1997, Human genetics, 101, 355, 10.1007/s004390050641

2003, American journal of medical genetics, 123, 310

Lowry, 1971, New England Journal of Medicine, 284, 221

Applegarth, 2000, Pediatrics, 105, e10, 10.1542/peds.105.1.e10

Triggs-Raine, 1999, PNAS, 96, 6296, 10.1073/pnas.96.11.6296

Imundo, 2011, Journal of inherited metabolic disease, 34, 1013, 10.1007/s10545-011-9343-3

Bach, 1972, PNAS, 69, 2048, 10.1073/pnas.69.8.2048

Muenzer, 2009, Pediatrics, 123, 19, 10.1542/peds.2008-0416

Martin, 2008, Pediatrics, 121, e377, 10.1542/peds.2007-1350

Ashworth, 2006, Survey of ophthalmology, 51, 1, 10.1016/j.survophthal.2005.11.007

1992, ANN OTOL RHINOL LAYNGOL, 101, 472, 10.1177/000348949210100605

2010, Paediatric respiratory reviews, 12, 133

Farina, 1992, Acta paediatrica (Oslo, Norway : 1992), 81, 702, 10.1111/j.1651-2227.1992.tb12339.x

Rigante, 2002, Cardiology, 98, 18, 10.1159/000064674

1997, The Journal of Bone and Joint Surgery, 79-B, 576, 10.1302/0301-620X.79B4.0790576

Thappa, 1998, Pediatric dermatology, 15, 370, 10.1046/j.1525-1470.1998.1998015370.x

Wraith, 1995, Archives of Disease in Childhood, 72, 263, 10.1136/adc.72.3.263

1999, 30, 270, 10.1055/s-2007-973503

Valstar, 2010, Annals of neurology, 68, 876, 10.1002/ana.22092

Northover, 1996, Journal of inherited metabolic disease, 19, 357, 10.1007/BF01799267

Valayannopoulos, 2010, 5, 5, 10.1186/1750-1172-5-5

2005, American journal of medical genetics, 134A, 144, 10.1002/ajmg.a.30579

1979, Clinical science, 57, 265, 10.1042/cs0570265

Terlato, 2003, Genetics in medicine : official journal of the American College of Medical Genetics, 5, 286, 10.1097/01.GIM.0000078027.83236.49

Scott, 1995, Human mutation, 6, 288, 10.1002/humu.1380060403

Froissart, 2002, Acta paediatrica (Oslo, Norway : 1992). Supplement, 91, 82, 10.1111/j.1651-2227.2002.tb03116.x

Tomatsu, 1991, American journal of human genetics, 48, 89

Mahalingam, 2004, Indian journal of pediatrics, 71, 29, 10.1007/BF02725652

Hall, 1978, Methods in enzymology, 50, 439, 10.1016/0076-6879(78)50048-7

Young, 1992, Journal of inherited metabolic disease, 15, 224, 10.1007/BF01799636

Filocamo, 2011, Human genomics, 5, 156, 10.1186/1479-7364-5-3-156

Arn, 2009, The Journal of pediatrics, 154, 859, 10.1016/j.jpeds.2008.12.024

Mendelsohn, 2010, Genetics in medicine : official journal of the American College of Medical Genetics, 12, 816, 10.1097/GIM.0b013e3181f6e74d

2010, Paediatric respiratory reviews, 12, 133

Hobbs, 1981, Lancet, 2, 709, 10.1016/S0140-6736(81)91046-1

Souillet, 2003, Bone marrow transplantation, 31, 1105, 10.1038/sj.bmt.1704105

Herskhovitz, 1999, Journal of inherited metabolic disease, 22, 50, 10.1023/A:1005447232027

Yamada, 1998, Bone marrow transplantation, 21, 629, 10.1038/sj.bmt.1701141

Braunlin, 2003, The American journal of cardiology, 92, 882, 10.1016/S0002-9149(03)00909-3

Weisstein, 2004, Journal of pediatric orthopedics, 24, 97, 10.1097/01241398-200401000-00019

Peters, 2000, Bone marrow transplantation, 25, 1097, 10.1038/sj.bmt.1702398

Sivakumur, 1999, Journal of inherited metabolic disease, 22, 849, 10.1023/A:1005526628598

Prasad, 2010, Seminars in hematology, 47, 59, 10.1053/j.seminhematol.2009.10.008

Boelens, 2007, Bone marrow transplantation, 40, 225, 10.1038/sj.bmt.1705718

2008, Bone marrow transplantation, 41, S87, 10.1038/bmt.2008.62

2007, Pediatrics, 120, e37, 10.1542/peds.2006-2156

Clarke, 2009, Pediatrics, 123, 229, 10.1542/peds.2007-3847

Muenzer, 2006, Genetics in medicine : official journal of the American College of Medical Genetics, 8, 465, 10.1097/01.gim.0000232477.37660.fb

Harmatz, 2006, The Journal of pediatrics, 148, 533, 10.1016/j.jpeds.2005.12.014

Muenzer, 2011, Genetics in medicine : official journal of the American College of Medical Genetics, 13, 95, 10.1097/GIM.0b013e3181fea459

Muenzer, 2011, Genetics in medicine : official journal of the American College of Medical Genetics, 13, 102, 10.1097/GIM.0b013e318206786f

Burton, 2011, Molecular genetics and metabolism, 103, 113, 10.1016/j.ymgme.2011.02.018