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