-
1
-
-
0025914001
-
Review of neonatal screening programme for phenylketonuria
-
Smith I, Cook B, Beasley M. Review of neonatal screening programme for phenylketonuria. BrMedJ 1991; 303: 333-335.
-
(1991)
Brmedj
, vol.303
, pp. 333-335
-
-
Smith, I.1
Cook, B.2
Beasley, M.3
-
2
-
-
0027298580
-
Inherited metabolic diseases: Collaborating for the health of all children
-
Novello AC. Inherited metabolic diseases: collaborating for the health of all children. Biochem Med Metab Biol 1993; 49: 277-284.
-
(1993)
Biochem Med Metab Biol
, vol.49
, pp. 277-284
-
-
Novello, A.C.1
-
4
-
-
0028949339
-
An audit of infants 'unscreened' by the neonatal screening system in Scotland during 1991
-
Tappin DM, Girdwood RWA, Kennedy R, et al. An audit of infants 'unscreened' by the neonatal screening system in Scotland during 1991. Screening 1995; 3: 201-207.
-
(1995)
Screening
, vol.3
, pp. 201-207
-
-
Tappin, D.M.1
Girdwood, R.W.A.2
Kennedy, R.3
-
5
-
-
0026730958
-
Issues in state newborn screening programs
-
Clayton EW. Issues in state newborn screening programs. Pediatrics 1992; 90: 641-646.
-
(1992)
Pediatrics
, vol.90
, pp. 641-646
-
-
Clayton, E.W.1
-
7
-
-
0025109883
-
Assessing the clinical effectiveness of preventive maneuvers: Analytic principles and systematic methods in reviewing evidence and developing clinical practice recommendations. A report by the Canadian Task Force on the Periodic Health Examination
-
Woolf SH, Battista RN, Anderson GM, Logan AG, Wang E. Assessing the clinical effectiveness of preventive maneuvers: analytic principles and systematic methods in reviewing evidence and developing clinical practice recommendations. A report by the Canadian Task Force on the Periodic Health Examination. J Clin Epidemiol 1990; 43: 891-905.
-
(1990)
J Clin Epidemiol
, vol.43
, pp. 891-905
-
-
Woolf, S.H.1
Battista, R.N.2
Anderson, G.M.3
Logan, A.G.4
Wang, E.5
-
9
-
-
0028816097
-
Regional variations in medium-chain acyl-CoA dehydrogenase deficiency
-
Seddon HR, Green A, Gray RG, Leonard JV, Pollitt RJ. Regional variations in medium-chain acyl-CoA dehydrogenase deficiency. Lancet 1995; 345: 135-136.
-
(1995)
Lancet
, vol.345
, pp. 135-136
-
-
Seddon, H.R.1
Green, A.2
Gray, R.G.3
Leonard, J.V.4
Pollitt, R.J.5
-
10
-
-
0028885036
-
Cognitive function in early treated biotinidase deficiency: Follow-up of children detected by newborn screening
-
WarnerRogers J, Waisbren SE, Levy HL. Cognitive function in early treated biotinidase deficiency: follow-up of children detected by newborn screening. Screening 1995; 4: 125-130.
-
(1995)
Screening
, vol.4
, pp. 125-130
-
-
Warnerrogers, J.1
Waisbren, S.E.2
Levy, H.L.3
-
11
-
-
0027317014
-
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder
-
Pang S, Clark A. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: newborn screening and its relationship to the diagnosis and treatment of the disorder. Screening 1993; 2: 105-139.
-
(1993)
Screening
, vol.2
, pp. 105-139
-
-
Pang, S.1
Clark, A.2
-
12
-
-
9844261050
-
Benefits of screening for congenital adrenal hyperplasia in Sweden
-
Levy HL, Hermos RJ, Grady GF, eds
-
Nordenstrom A, Thilen A, Hagenfeldt L, et al. Benefits of screening for congenital adrenal hyperplasia in Sweden. In: Levy HL, Hermos RJ, Grady GF, eds. Third International Meeting of the Society for Neonatal Screening. Boston, MA: Third International Society for Neonatal Screening, 1996: 211-212.
-
(1996)
Third International Meeting of the Society for Neonatal Screening. Boston, MA: Third International Society for Neonatal Screening
, pp. 211-212
-
-
Nordenstrom, A.1
Thilen, A.2
Hagenfeldt, L.3
-
13
-
-
0027370905
-
Galactosaemia: Results of the British Paediatric Surveillance Unit Study, 1988-90
-
Honeyman MM, Green A, Holton JB, Leonard JV. Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988-90. Arch Dis Child 1993; 69: 339-341.
-
(1993)
Arch Dis Child
, vol.69
, pp. 339-341
-
-
Honeyman, M.M.1
Green, A.2
Holton, J.B.3
Leonard, J.V.4
-
14
-
-
0029266324
-
In situ PCR amplification of Guthrie card DNA to detect cystic fibrosis mutations
-
Makowski GS, Aslanzadeh J, Hopfer SM. In situ PCR amplification of Guthrie card DNA to detect cystic fibrosis mutations. Clin Chem 1995; 41: 477-479.
-
(1995)
Clin Chem
, vol.41
, pp. 477-479
-
-
Makowski, G.S.1
Aslanzadeh, J.2
Hopfer, S.M.3
-
15
-
-
26844539791
-
Martinmaki A. A concept for full automation of immunoassays performed in newborn screening laboratories
-
Levy HL, Hermos RJ, Grady GF, eds
-
Ostrup J, Jones M, Martinmaki A. A concept for full automation of immunoassays performed in newborn screening laboratories. In: Levy HL, Hermos RJ, Grady GF, eds. Third Meeting of the International Society for Neonatal Screening. Boston, MA: Third International Society for Neonatal Screening, 1996: 171-172.
-
(1996)
Third Meeting of the International Society for Neonatal Screening. Boston, MA: Third International Society for Neonatal Screening
, pp. 171-172
-
-
Ostrup, J.1
Jones, M.2
-
16
-
-
0027395318
-
Rapid diagnosis of phenylketonuria by quantitative analysis for phenylala-nine and tyrosine in neonatal blood spots by tandem mass spectrometry
-
Chace DH, Millington DS, Terada N, et al. Rapid diagnosis of phenylketonuria by quantitative analysis for phenylala-nine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem 1993; 39: 66-71.
-
(1993)
Clin Chem
, vol.39
, pp. 66-71
-
-
Chace, D.H.1
Millington, D.S.2
Terada, N.3
-
17
-
-
0020313153
-
Health economic analysis of the Swedish neonatal metabolic screening programme. A method of optimizing routines
-
Aim J, Larsson A, Rosenqvist U. Health economic analysis of the Swedish neonatal metabolic screening programme. A method of optimizing routines. Med Decision Making 1982; 2: 33-45.
-
(1982)
Med Decision Making
, vol.2
, pp. 33-45
-
-
Aim, J.1
Larsson, A.2
Rosenqvist, U.3
-
18
-
-
0016402870
-
Massachusetts Department of Public Health. Cost-benefit analysis of newborn screening for metabolic disorders
-
Anonymous. Massachusetts Department of Public Health. Cost-benefit analysis of newborn screening for metabolic disorders. N Engl J Med 1974; 291: 1414-1416.
-
(1974)
N Engl J Med
, vol.291
, pp. 1414-1416
-
-
-
19
-
-
0021384283
-
The costs and benefits of screening for PKU in Wisconsin
-
Barden HS, Kessel R, Schuett VE. The costs and benefits of screening for PKU in Wisconsin. Social Biol 1984; 31: 1-17.
-
(1984)
Social Biol
, vol.31
, pp. 1-17
-
-
Barden, H.S.1
Kessel, R.2
Schuett, V.E.3
-
21
-
-
0026585050
-
Maternal phenylketonuria-diet dangers and dilemmas
-
Cockburn F, Clark BJ, Byrne A, et al. Maternal phenylketonuria-diet dangers and dilemmas. Int Pediatr 1992; 7(1): 67-74.
-
(1992)
Int Pediatr
, vol.7
, Issue.1
, pp. 67-74
-
-
Cockburn, F.1
Clark, B.J.2
Byrne, A.3
-
22
-
-
0022416550
-
A cost-benefit analysis of the Quebec Network of Genetic Medicine
-
Dagenais DL, Courville L, Dagenais MG. A cost-benefit analysis of the Quebec Network of Genetic Medicine. Social SciMed 1985; 20: 601-607.
-
(1985)
Social Scimed
, vol.20
, pp. 601-607
-
-
Dagenais, D.L.1
Courville, L.2
Dagenais, M.G.3
-
23
-
-
0025899340
-
Economic evaluation of cost-benefit ratio of neonatal screening procedure for phenylketonuria and hypothyroidism
-
Dhondt JL, Farriaux JP, Sailly JC, Lebrun T. Economic evaluation of cost-benefit ratio of neonatal screening procedure for phenylketonuria and hypothyroidism. J Inherited Metab Dis 1991; 14: 633-639.
-
(1991)
J Inherited Metab Dis
, vol.14
, pp. 633-639
-
-
Dhondt, J.L.1
Farriaux, J.P.2
Sailly, J.C.3
Lebrun, T.4
-
24
-
-
0024344161
-
Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn
-
Dunkel G, Scriver CR, Clow CL, et al. Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn. J Inherited Metab Dis 1989; 12: 131-138.
-
(1989)
J Inherited Metab Dis
, vol.12
, pp. 131-138
-
-
Dunkel, G.1
Scriver, C.R.2
Clow, C.L.3
-
25
-
-
0028260736
-
-
Hisashige A. Health economic analysis of the neonatal screening program in Japan. Int J Technol Assessment Hlth Care 1994; 10: 382-391.
-
(1994)
Int J Technol Assessment Hlth Care
, vol.10
, pp. 382-391
-
-
-
26
-
-
0020957733
-
Pitfalls of newborn screening (With special attention to hypothyroidism): When will we ever learn?
-
Holtzman NA. Pitfalls of newborn screening (with special attention to hypothyroidism): when will we ever learn? Birth Defects: Original Article Series 1983; 19: 111-120.
-
(1983)
Birth Defects: Original Article Series
, vol.19
, pp. 111-120
-
-
Holtzman, N.A.1
-
27
-
-
0018713287
-
The Manchester regional screening programme: A 10-year exercise in patient and family care
-
Komrower GM, Sardharwalla IB, Fowler B, Bridge C. The Manchester regional screening programme: a 10-year exercise in patient and family care. BrMedJ 1979; 2: 635-638.
-
(1979)
Brmedj
, vol.2
, pp. 635-638
-
-
Komrower, G.M.1
Sardharwalla, I.B.2
Fowler, B.3
Bridge, C.4
-
29
-
-
29344441709
-
Newborn screening for inborn errors of metabolism: A systematic review
-
Thomason MJ, Lord J, Bain MD, et al. Newborn screening for inborn errors of metabolism: a systematic review. Health Technol Assess 1997; 1(11).
-
(1997)
Health Technol Assess
, vol.1
, Issue.11
-
-
Thomason, M.J.1
Lord, J.2
Bain, M.D.3
-
30
-
-
85007767760
-
Neonatal screening. Performance is hard to monitor
-
Cappuccio FP, Hickman M, Barker M. Neonatal screening. Performance is hard to monitor. Br Med J 1996; 312: 182.
-
(1996)
Br Med J
, vol.312
, pp. 182
-
-
Cappuccio, F.P.1
Hickman, M.2
Barker, M.3
-
31
-
-
0003720078
-
The hyperphenylalaninemias
-
Scriber CR, Beaudet AL, Sly WS, Valle D, eds., 7th edn. New York: McGraw-Hill
-
Scriver CR, Kaufman S, Eisensmith RC, Woo SLC. The hyperphenylalaninemias. In: Scriber CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1995: 1015-1075.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1015-1075
-
-
Scriver, C.R.1
Kaufman, S.2
Eisensmith, R.C.3
Woo, S.L.C.4
-
32
-
-
85071203899
-
-
Bibunstruct
-
Bibunstruct
-
-
-
-
33
-
-
0002454383
-
Hyperphenylalaninaemias
-
Fernandes J, Saudubray J-M, van der Berghe G, eds, Berlin: Springer-Verlag
-
Smith I, Brenton DP. Hyperphenylalaninaemias. In Fernandes J, Saudubray J-M, van der Berghe G, eds. Inborn Metabolic Diseases. Berlin: Springer-Verlag, 1995: 147-160.
-
(1995)
Inborn Metabolic Diseases
, pp. 147-160
-
-
Smith, I.1
Brenton, D.P.2
-
34
-
-
0002977005
-
Disorders of branched chain amino acid and keto acid metabolism
-
ScriverCR, Beaudet AL, Sly WS, Valle D,., New York: McGraw-Hill
-
Chuang DT, Shih VE. Disorders of branched chain amino acid and keto acid metabolism. In: ScriverCR, Beaudet AL, Sly WS, Valle D, eds. The Molecular and Metabolic Bases of Inherited Disease, New York: McGraw-Hill, 1995: 1239-1277.
-
(1995)
The Molecular and Metabolic Bases of Inherited Disease
, pp. 1239-1277
-
-
Chuang, D.T.1
Shih, V.E.2
-
35
-
-
0017805158
-
Newborn screening for maple syrup urine disease (Branched-chain ketoaciduria)
-
Naylor EW, Guthrie R. Newborn screening for maple syrup urine disease (branched-chain ketoaciduria). Pediatrics 1978; 61: 262-266.
-
(1978)
Pediatrics
, vol.61
, pp. 262-266
-
-
Naylor, E.W.1
Guthrie, R.2
-
36
-
-
0026553444
-
Maple syrup urine disease: Interrelations between branched-chain amino-, oxo-and hydroxyacids; implications for treatment; associations with CNS dysmyelination
-
Treacy E, Clow CL, Reade TR, et al. Maple syrup urine disease: interrelations between branched-chain amino-, oxo-and hydroxyacids; implications for treatment; associations with CNS dysmyelination. J Inherited Metab Dis 1992; 15: 121-135.
-
(1992)
J Inherited Metab Dis
, vol.15
, pp. 121-135
-
-
Treacy, E.1
Clow, C.L.2
Reade, T.R.3
-
37
-
-
0028895728
-
Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectroscopy
-
Chace DH, Hillman SL, Millington DS, et al. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectroscopy. Clin Chem 1995; 41: 62-68.
-
(1995)
Clin Chem
, vol.41
, pp. 62-68
-
-
Chace, D.H.1
Hillman, S.L.2
Millington, D.S.3
-
38
-
-
0021894152
-
The natural history of homocystinuria due to cystathionine beta-synthase deficiency
-
Mudd SH, Skovby F, Levy HL, et al. The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Human Genet 1985; 37: 1-31.
-
(1985)
Am J Human Genet
, vol.37
, pp. 1-31
-
-
Mudd, S.H.1
Skovby, F.2
Levy, H.L.3
-
39
-
-
0000362736
-
Hypertyrosinemia
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds., 7th edn. New York: McGraw-Hill
-
Mitchell GA, Lambert M, Tanguay RM. Hypertyrosinemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1995: 1077-1106.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1077-1106
-
-
Mitchell, G.A.1
Lambert, M.2
Tanguay, R.M.3
-
41
-
-
0018399485
-
Changing incidence of neonatal hypermethioninaemia: Implications for the detection of homocystinuria
-
Whiteman PD, Clayton BE, Ersser RS, Lilly P, Seakins JW. Changing incidence of neonatal hypermethioninaemia: implications for the detection of homocystinuria. Arch Dis Child 1979; 54: 593-598.
-
(1979)
Arch Dis Child
, vol.54
, pp. 593-598
-
-
Whiteman, P.D.1
Clayton, B.E.2
Ersser, R.S.3
Lilly, P.4
Seakins, J.W.5
-
42
-
-
0029940590
-
Rapid diagnosis of homocystinuria and other hypermethionine-mias from newborns' blood spots by tandem mass spectroscopy
-
Chace DH, Hillman SL, Millington DS, et al. Rapid diagnosis of homocystinuria and other hypermethionine-mias from newborns' blood spots by tandem mass spectroscopy. Clin Chem 1996; 42: 349-355.
-
(1996)
Clin Chem
, vol.42
, pp. 349-355
-
-
Chace, D.H.1
Hillman, S.L.2
Millington, D.S.3
-
43
-
-
0025041515
-
Fumaryl-acetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I
-
Laberge C, Grenier A, Valet JP, Morissette J. Fumaryl-acetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I. Am J Human Genet 1990; 47: 325-328.
-
(1990)
Am J Human Genet
, vol.47
, pp. 325-328
-
-
Laberge, C.1
Grenier, A.2
Valet, J.P.3
Morissette, J.4
-
44
-
-
0028899006
-
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: Neonatal screening shows high incidence and unexpected mutation frequencies
-
Ziadeh R, Hoffman EP, Finegold DN, et al. Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. Pediatr Res 1995; 37: 675-678.
-
(1995)
Pediatr Res
, vol.37
, pp. 675-678
-
-
Ziadeh, R.1
Hoffman, E.P.2
Finegold, D.N.3
-
45
-
-
4243217342
-
Disorders of organic acid metabolism
-
Holton JB, ed., Edinburgh: Churchill Livingstone
-
Chalmers RA. Disorders of organic acid metabolism. In: Holton JB, ed. The Inherited Metabolic Diseases. Edinburgh: Churchill Livingstone, 1994: 115-204.
-
(1994)
The Inherited Metabolic Diseases
, pp. 115-204
-
-
Chalmers, R.A.1
-
47
-
-
85071213883
-
-
7th edn. New York: McGraw-Hill
-
disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1995: 1501-1533.
-
(1995)
Scriver CR, Beaudet AL, Sly WS, Valle D, Eds. the Metabolic and Molecular Bases of Inherited Disease
, pp. 1501-1533
-
-
-
48
-
-
0003237157
-
Branched Chain Organic Acidurias
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds., 7th edn. New York: McGraw-Hill
-
Sweetman L, Williams JC. Branched Chain Organic Acidurias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic And Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1995: 1387-1422.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1387-1422
-
-
Sweetman, L.1
Williams, J.C.2
-
49
-
-
0001362219
-
Disorders of propionate and methylmalonate metabolism
-
Scriver CS, Beaudet AL, Sly WS, Valle D, eds., 7th ed. New York: McGraw-Hill
-
Fenton WA, Rosenberg LE. Disorders of propionate and methylmalonate metabolism. In: Scriver CS, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th ed. New York: McGraw-Hill, 1995: 1423-1449.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1423-1449
-
-
Fenton, W.A.1
Rosenberg, L.E.2
-
50
-
-
0026070047
-
Worldwide survey of neonatal screening for biotinidase deficiency
-
Wolf B. Worldwide survey of neonatal screening for biotinidase deficiency. J Inherited Metab Dis 1991; 14: 923-927.
-
(1991)
J Inherited Metab Dis
, vol.14
, pp. 923-927
-
-
Wolf, B.1
-
51
-
-
0023034457
-
Prevalence of adrenal 21-hydroxylase deficiency in neonates born in the West Midlands: A retrospective study
-
Rudd BT. Prevalence of adrenal 21-hydroxylase deficiency in neonates born in the West Midlands: a retrospective study. J Inherited Metab Dis 1986; 9(Suppl 1): 155-156.
-
(1986)
J Inherited Metab Dis
, vol.9
, pp. 155-156
-
-
Rudd, B.T.1
-
52
-
-
0022965941
-
Review of CAH screening programmes and the Scottish experience
-
Wallace AM. Review of CAH screening programmes and the Scottish experience. J Inherited Metab Dis 1986; 9(Suppl 1): 135-141.
-
(1986)
J Inherited Metab Dis
, vol.9
, pp. 135-141
-
-
Wallace, A.M.1
-
53
-
-
0024401127
-
The quantitation of biotinidase activity in dried blood spots using microtiter transfer plates: Identification of biotinidase-deficient and heterozygous individuals
-
Pettit DA, Amador PS, Wolf B. The quantitation of biotinidase activity in dried blood spots using microtiter transfer plates: identification of biotinidase-deficient and heterozygous individuals. Analyt Biochem 1989; 179: 371-374.
-
(1989)
Analyt Biochem
, vol.179
, pp. 371-374
-
-
Pettit, D.A.1
Amador, P.S.2
Wolf, B.3
-
54
-
-
0003720078
-
Familial hypercholesterolemia
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds., 7th edn. New York: McGraw-Hill
-
Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1995: 1981-2030.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1981-2030
-
-
Goldstein, J.L.1
Hobbs, H.H.2
Brown, M.S.3
-
55
-
-
0027457237
-
Screening for familial hypercholesterolemia in childhood
-
Gillman MW. Screening for familial hypercholesterolemia in childhood. Am J Dis Child 1993; 147: 393-396.
-
(1993)
Am J Dis Child
, vol.147
, pp. 393-396
-
-
Gillman, M.W.1
-
56
-
-
0020578907
-
Screening for hypercholesterolaemia on blood spotted filterpaper
-
Asami T. Screening for hypercholesterolaemia on blood spotted filterpaper. Lancet 1983; 2: 229-230.
-
(1983)
Lancet
, vol.2
, pp. 229-230
-
-
Asami, T.1
-
57
-
-
0027456696
-
An epidemiological study of Wilson's disease in the Republic of Ireland
-
Reilly M, Daly L, Hutchinson M. An epidemiological study of Wilson's disease in the Republic of Ireland. J Neurol Neurosurg Psychiat 1993; 56: 298-300.
-
(1993)
J Neurol Neurosurg Psychiat
, vol.56
, pp. 298-300
-
-
Reilly, M.1
Daly, L.2
Hutchinson, M.3
-
58
-
-
0029127425
-
Galactosemia unsolved
-
Segal S. Galactosemia unsolved. Eur J Pediatr 1995; 154: S97-S102.
-
(1995)
Eur J Pediatr
, vol.154
, pp. S97-S102
-
-
Segal, S.1
-
59
-
-
0028450922
-
Treatment of Wilson's disease with zinc. XIII: Therapy with zinc in presymptomatic patients from the time of diagnosis
-
Brewer GJ, Dick RD, Yuzbasiyan-Gurkan V, Johnson V, Wang Y. Treatment of Wilson's disease with zinc. XIII: Therapy with zinc in presymptomatic patients from the time of diagnosis. J Lab Clin Med 1994; 123: 849-858.
-
(1994)
J Lab Clin Med
, vol.123
, pp. 849-858
-
-
Brewer, G.J.1
Dick, R.D.2
Yuzbasiyan-Gurkan, V.3
Johnson, V.4
Wang, Y.5
-
61
-
-
0000386450
-
Disorders of copper transport
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds., 7th edn. New York: McGraw-Hill
-
Danks DM. Disorders of copper transport. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1995: 2211-2235.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2211-2235
-
-
Danks, D.M.1
-
62
-
-
0346838090
-
Neonatal screening for galactose metabolic defects
-
Farriaux J-P, Dhondt J-L, eds., Amsterdam: Elsevier
-
Schickling H, Schweitzer S, Shin Y, Diepenbrock F, Sander J. Neonatal screening for galactose metabolic defects. In: Farriaux J-P, Dhondt J-L, eds. New Horizons in Neonatal Screening. Amsterdam: Elsevier, 1994: 185-189.
-
(1994)
New Horizons in Neonatal Screening
, pp. 185-189
-
-
Schickling, H.1
Schweitzer, S.2
Shin, Y.3
Diepenbrock, F.4
Sander, J.5
-
63
-
-
0027235531
-
Comparison of the effects of season and prematurity on the enzymatic newborn screening tests for galactosemia and biotipidase deficiency
-
Thibodeau DL, Andrews W, Meyer J, Mitchell P, Wolf B. Comparison of the effects of season and prematurity on the enzymatic newborn screening tests for galactosemia and biotipidase deficiency. Screening 1993; 2: 19-27.
-
(1993)
Screening
, vol.2
, pp. 19-27
-
-
Thibodeau, D.L.1
Andrews, W.2
Meyer, J.3
Mitchell, P.4
Wolf, B.5
-
64
-
-
0017784141
-
New screening method for Wilson's disease and Menkes' kinky-hair disease
-
Aoki T, Nakahashi M. New screening method for Wilson's disease and Menkes' kinky-hair disease. Lancet 1977; 2: 1140.
-
(1977)
Lancet
, vol.2
, pp. 1140
-
-
Aoki, T.1
Nakahashi, M.2
-
65
-
-
0009609401
-
A new screening method for Wilson's disease by measuring blood caerulo-plasmin level
-
Farriaux J-P, Dhondt J-L, eds., Amsterdam: Elsevier
-
Fujioka Y, Aoki T, Shimizu N, et al. A new screening method for Wilson's disease by measuring blood caerulo-plasmin level. In: Farriaux J-P, Dhondt J-L, eds. New Horizons in Neonatal Screening. Amsterdam: Elsevier, 1994: 285-288.
-
(1994)
New Horizons in Neonatal Screening
, pp. 285-288
-
-
Fujioka, Y.1
Aoki, T.2
Shimizu, N.3
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