-
1
-
-
0003720078
-
-
New York: McGraw-Hill
-
Scriver CR, Beaudet AL, Sly WS, et al. The metabolic and molecular bases of inherited disease, Vol 1. New York: McGraw-Hill, 2001:53-118.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, vol.1
, pp. 53-118
-
-
Scriver, C.R.1
Beaudet, A.L.2
Sly, W.S.3
-
2
-
-
0033523791
-
Inborn errors of metabolism: A clinical overview
-
Martins AM. Inborn errors of metabolism: a clinical overview. Sao Paulo Med J 1999;117:251-65.
-
(1999)
Sao Paulo Med J
, vol.117
, pp. 251-265
-
-
Martins, A.M.1
-
3
-
-
29344441709
-
Newborn screening for inborn errors of metabolism: A systematic review
-
Seymour CA, Thomason SA, Chalmers RA, et al. Newborn screening for inborn errors of metabolism: a systematic review. Health Technol Assess 1997;1:1-95.
-
(1997)
Health Technol Assess
, vol.1
, pp. 1-95
-
-
Seymour, C.A.1
Thomason, S.A.2
Chalmers, R.A.3
-
4
-
-
8544252461
-
Ashkenazi Jewish genetic disorders
-
Charrow J. Ashkenazi Jewish genetic disorders. Fam Cancer 2004;3:201-6.
-
(2004)
Fam Cancer
, vol.3
, pp. 201-206
-
-
Charrow, J.1
-
5
-
-
0032780351
-
The frequency of lysosomal storage disorders in the Netherlands
-
Poorthuis BJ, Wever RA, Kleijer WJ, et al. The frequency of lysosomal storage disorders in The Netherlands. Hum Genet 1999;105:151-6.
-
(1999)
Hum Genet
, vol.105
, pp. 151-156
-
-
Poorthuis, B.J.1
Wever, R.A.2
Kleijer, W.J.3
-
6
-
-
0030818755
-
Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism
-
Coelho JC, Wajner M, Burin MG, et al. Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism. Eur J Pediatr 1997;156:650-4.
-
(1997)
Eur J Pediatr
, vol.156
, pp. 650-654
-
-
Coelho, J.C.1
Wajner, M.2
Burin, M.G.3
-
8
-
-
0037685217
-
Screening newborns for inborn errors of metabolism by tandem mass spectrometry
-
Wilcken B, Wiley V, Hammond J, et al. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. New Engl J Med 2003;348:2304-12.
-
(2003)
New Engl J Med
, vol.348
, pp. 2304-2312
-
-
Wilcken, B.1
Wiley, V.2
Hammond, J.3
-
9
-
-
33748572321
-
Incidence of inborn errors of metabolism in British Columbia, 1969-1996
-
Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 2000;105:e10.
-
(2000)
Pediatrics
, vol.105
-
-
Applegarth, D.A.1
Toone, J.R.2
Lowry, R.B.3
-
10
-
-
0036220093
-
Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey
-
Dionisi-Vici C, Rizzo C, Boenzi S, et al. Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr 2002;140:321-7.
-
(2002)
J Pediatr
, vol.140
, pp. 321-327
-
-
Dionisi-Vici, C.1
Rizzo, C.2
Boenzi, S.3
-
11
-
-
0031947739
-
A comparison of disorder and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK
-
Hutchesson AC, Bundey S, Preece MA, et al. A comparison of disorder and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK. J Med Genet 1998;35:366-70.
-
(1998)
J Med Genet
, vol.35
, pp. 366-370
-
-
Hutchesson, A.C.1
Bundey, S.2
Preece, M.A.3
-
12
-
-
0242300682
-
Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: A cost-effectiveness analysis
-
Venditti LN, Venditti CP, Berry GT, et al. Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis. Pediatrics 2003;112:1005-15.
-
(2003)
Pediatrics
, vol.112
, pp. 1005-1015
-
-
Venditti, L.N.1
Venditti, C.P.2
Berry, G.T.3
-
13
-
-
17344383506
-
Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: A systematic review
-
Pandor A, Eastham J, Beverley C, et al. Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review. Health Technol Assess 2004;8:1-121.
-
(2004)
Health Technol Assess
, vol.8
, pp. 1-121
-
-
Pandor, A.1
Eastham, J.2
Beverley, C.3
-
14
-
-
7244251623
-
Reduction of lysine intake while avoiding malnutrition-major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase deficiency
-
Muller E, Kolker S. Reduction of lysine intake while avoiding malnutrition-major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2004;27:903-10.
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 903-910
-
-
Muller, E.1
Kolker, S.2
-
15
-
-
16844384688
-
Enzyme replacement therapy in mucopolysaccharidosis type I
-
Miebach E. Enzyme replacement therapy in mucopolysaccharidosis type I. Acta Paediatr Suppl 2005;94:58-60.
-
(2005)
Acta Paediatr Suppl
, vol.94
, pp. 58-60
-
-
Miebach, E.1
-
16
-
-
4243100675
-
Enzyme replacement therapy in Fabry's disorder: Recent advances and clinical applications
-
Mignani R, Cagnoli L. Enzyme replacement therapy in Fabry's disorder: recent advances and clinical applications. J Nephrol 2004;17:354-63.
-
(2004)
J Nephrol
, vol.17
, pp. 354-363
-
-
Mignani, R.1
Cagnoli, L.2
-
17
-
-
2942596259
-
Treatment of lysosomal storage disorders: Cell therapy and gene therapy
-
Eto Y, Shen JS, Meng XL, et al. Treatment of lysosomal storage disorders: cell therapy and gene therapy. J Inherit Metab Dis 2004;27:411-5.
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 411-415
-
-
Eto, Y.1
Shen, J.S.2
Meng, X.L.3
-
18
-
-
2942708151
-
Hematopoietic stem cell transplantation for mucopolysaccharidoses and leukodystrophies
-
Sauer M, Grewal S, Peters C. Hematopoietic stem cell transplantation for mucopolysaccharidoses and leukodystrophies. Klin Padiatr 2004;216:163-8.
-
(2004)
Klin Padiatr
, vol.216
, pp. 163-168
-
-
Sauer, M.1
Grewal, S.2
Peters, C.3
-
20
-
-
0040920369
-
-
Center for Medical Genetics. Johns Hopkins University & National Center for Biotechnology Information. (accessed 7 Aug 2006)
-
Center for Medical Genetics. Johns Hopkins University & National Center for Biotechnology Information National Library of Medicine. Online Mendelian Inheritance in Man (OMIM™), 2005. http://www.ncbi.nlm.nih.gov/ omim/ (accessed 7 Aug 2006).
-
(2005)
Online Mendelian Inheritance in Man (OMIM™)
-
-
|