-
1
-
-
75449123150
-
A simple phenylalanine method for detecting PKU in large, populations of newborn infants
-
Guthrie R., and Susi A. A simple phenylalanine method for detecting PKU in large, populations of newborn infants. Pediatrics 32 (1963) 338-343
-
(1963)
Pediatrics
, vol.32
, pp. 338-343
-
-
Guthrie, R.1
Susi, A.2
-
2
-
-
0028269579
-
Outcome of treatment in young adults with phenylketonuria detected by routine neonatal screening between 1964 and 1971
-
Beasley M., Costello P., and Smith I. Outcome of treatment in young adults with phenylketonuria detected by routine neonatal screening between 1964 and 1971. Q J Med 87 (1994) 155-160
-
(1994)
Q J Med
, vol.87
, pp. 155-160
-
-
Beasley, M.1
Costello, P.2
Smith, I.3
-
3
-
-
0007711197
-
Newborn phenylketonuria detection program in Massachusetts
-
MacGready R.A., and Hussey M.G. Newborn phenylketonuria detection program in Massachusetts. Am J Public Health 54 (1964) 2075
-
(1964)
Am J Public Health
, vol.54
, pp. 2075
-
-
MacGready, R.A.1
Hussey, M.G.2
-
4
-
-
0004299939
-
-
National Academy of Science, Washington, DC
-
National Research Council, and Committee for the study of inborn errors of metabolism. Genetic screening: programs, principles, and research (1975), National Academy of Science, Washington, DC
-
(1975)
Genetic screening: programs, principles, and research
-
-
National Research Council1
Committee for the study of inborn errors of metabolism2
-
5
-
-
0033844765
-
Serving the family from birth to the medical, home: a report from the newborn screening task force
-
Newborn Screening Task Force. Serving the family from birth to the medical, home: a report from the newborn screening task force. Pediatrics 106 (2000) S383-S427
-
(2000)
Pediatrics
, vol.106
-
-
Newborn Screening Task Force1
-
10
-
-
38249015730
-
U.S. newborn screening system, guidelines: statement of the Council of Regional Networks for Genetic Services
-
Therrell B.L., Panny S.R., Davidson A., et al. U.S. newborn screening system, guidelines: statement of the Council of Regional Networks for Genetic Services. Screening 1 (1992) 135-147
-
(1992)
Screening
, vol.1
, pp. 135-147
-
-
Therrell, B.L.1
Panny, S.R.2
Davidson, A.3
-
11
-
-
0026769391
-
Detection of HIV in specimens from newborn screening programs
-
Comeau A.M., Hsu H.W., Schwerzlwe M., et al. Detection of HIV in specimens from newborn screening programs. N Engl J Med 326 (1992) 1703
-
(1992)
N Engl J Med
, vol.326
, pp. 1703
-
-
Comeau, A.M.1
Hsu, H.W.2
Schwerzlwe, M.3
-
12
-
-
0028033017
-
Screening for neonatal toxoplasmosis
-
Schoen E.J., Black S., Cohen D., et al. Screening for neonatal toxoplasmosis. N Engl J Med 331 (1994) 1456-1458
-
(1994)
N Engl J Med
, vol.331
, pp. 1456-1458
-
-
Schoen, E.J.1
Black, S.2
Cohen, D.3
-
13
-
-
0019596357
-
Screening for congenital hypothyroidism
-
Postellon D.C. Screening for congenital hypothyroidism. J Pediatr 9 (1981) 170-171
-
(1981)
J Pediatr
, vol.9
, pp. 170-171
-
-
Postellon, D.C.1
-
14
-
-
0018178756
-
Newborn screening for galactosemia and other galactose metabolic defects
-
Levy H.L., and Hammersen G. Newborn screening for galactosemia and other galactose metabolic defects. J Pediatr 92 (1978) 871-877
-
(1978)
J Pediatr
, vol.92
, pp. 871-877
-
-
Levy, H.L.1
Hammersen, G.2
-
15
-
-
0025648036
-
Long-term prognosis in galactosaemia: results of a survey of 350 cases
-
Waggoner D.D., Buist N.R., and Donnell G.N. Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis 13 (1990) 802-818
-
(1990)
J Inherit Metab Dis
, vol.13
, pp. 802-818
-
-
Waggoner, D.D.1
Buist, N.R.2
Donnell, G.N.3
-
16
-
-
0021176743
-
Application of high resolution fast atom bombardment and constant B/E ration linked scanning to the identification and analysis of acylcarnitines in metabolic disease
-
Millington D.S., Roe C.R., and Maltby D.A. Application of high resolution fast atom bombardment and constant B/E ration linked scanning to the identification and analysis of acylcarnitines in metabolic disease. Biomed Mass Spectrom 11 (1984) 236-241
-
(1984)
Biomed Mass Spectrom
, vol.11
, pp. 236-241
-
-
Millington, D.S.1
Roe, C.R.2
Maltby, D.A.3
-
17
-
-
0025129387
-
Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
-
Millington D.S., Kodo N., Norwood D.L., and Roe C.R. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis 13 (1990) 321-324
-
(1990)
J Inherit Metab Dis
, vol.13
, pp. 321-324
-
-
Millington, D.S.1
Kodo, N.2
Norwood, D.L.3
Roe, C.R.4
-
19
-
-
0034775820
-
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two year summary from the New England Newborn Screening Program
-
Zytkovicz T.H., Fitzgerald E.F., Marsden D., et al. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two year summary from the New England Newborn Screening Program. Clin Chem 47 (2001) 1945-1955
-
(2001)
Clin Chem
, vol.47
, pp. 1945-1955
-
-
Zytkovicz, T.H.1
Fitzgerald, E.F.2
Marsden, D.3
-
20
-
-
0032924833
-
Application of electrospray tandem mass spectrometry to neonatal screening
-
Rashed M.S., Rahbeeni Z., and Ozand P.T. Application of electrospray tandem mass spectrometry to neonatal screening. Semin Perinatol 23 (1999) 183-193
-
(1999)
Semin Perinatol
, vol.23
, pp. 183-193
-
-
Rashed, M.S.1
Rahbeeni, Z.2
Ozand, P.T.3
-
21
-
-
39049112289
-
The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders
-
Coates P.M., and Tanaka K. (Eds), Wiley-Liss, New York
-
Millington D.S., Terade N., Chace D.H., et al. The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders. In: Coates P.M., and Tanaka K. (Eds). New development in fatty acid oxidation: proceedings of the second International Symposium on clinical, biochemical, and molecular aspects of fatty acid oxidation (1991), Wiley-Liss, New York 339-354
-
(1991)
New development in fatty acid oxidation: proceedings of the second International Symposium on clinical, biochemical, and molecular aspects of fatty acid oxidation
, pp. 339-354
-
-
Millington, D.S.1
Terade, N.2
Chace, D.H.3
-
22
-
-
0027395318
-
Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry
-
Chace D.H., Millington D.S., Terada N., et al. Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem 39 (1993) 66-71
-
(1993)
Clin Chem
, vol.39
, pp. 66-71
-
-
Chace, D.H.1
Millington, D.S.2
Terada, N.3
-
23
-
-
0027286040
-
Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with radioisotopic exchange-high-performance liquid chromatographic method
-
Schmidt-Sommerfeld E., Penn D., Duran M., et al. Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with radioisotopic exchange-high-performance liquid chromatographic method. J Pediatr 122 (1993) 708-714
-
(1993)
J Pediatr
, vol.122
, pp. 708-714
-
-
Schmidt-Sommerfeld, E.1
Penn, D.2
Duran, M.3
-
24
-
-
0027359236
-
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood
-
Van Hove J.L., Zhang W., Kahler S.G., et al. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood. Am J Hum Genet 52 (1993) 958-966
-
(1993)
Am J Hum Genet
, vol.52
, pp. 958-966
-
-
Van Hove, J.L.1
Zhang, W.2
Kahler, S.G.3
-
25
-
-
0028895728
-
Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry
-
Chace D.H., Hillman S.L., Millington D.S., et al. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clin Chem 41 (1995) 62-68
-
(1995)
Clin Chem
, vol.41
, pp. 62-68
-
-
Chace, D.H.1
Hillman, S.L.2
Millington, D.S.3
-
26
-
-
0345930501
-
Tandem mass spectrometry in clinical diagnosis
-
Blau N., Duran M., Blaskovics M.E., and Gibson K.M. (Eds), Springer, Berlin, Germany
-
Millington D.S. Tandem mass spectrometry in clinical diagnosis. In: Blau N., Duran M., Blaskovics M.E., and Gibson K.M. (Eds). Physician's guide to the laboratory Diagnosis of metabolic diseases. 2nd ed. (2003), Springer, Berlin, Germany 57-85
-
(2003)
Physician's guide to the laboratory Diagnosis of metabolic diseases. 2nd ed.
, pp. 57-85
-
-
Millington, D.S.1
-
27
-
-
0028875935
-
Acylcarnitines in intermediary metabolism
-
Sewell A.C., and Bohles H.J. Acylcarnitines in intermediary metabolism. Eur J Pediatr 154 (1995) 871-877
-
(1995)
Eur J Pediatr
, vol.154
, pp. 871-877
-
-
Sewell, A.C.1
Bohles, H.J.2
-
28
-
-
0028823795
-
Biosynthesis and metabolism of carnitine
-
Carter A.L., Abney T.O., and Lapp D.F. Biosynthesis and metabolism of carnitine. J Child Neurol 10 Suppl 2 (1995) S3-S7
-
(1995)
J Child Neurol
, vol.10
, Issue.SUPPL.-2
-
-
Carter, A.L.1
Abney, T.O.2
Lapp, D.F.3
-
29
-
-
0030664016
-
Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry
-
Chace D.H., Hillman S.L., Van Hove J.L., et al. Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. Clin Chem 43 (1997) 2108-2113
-
(1997)
Clin Chem
, vol.43
, pp. 2108-2113
-
-
Chace, D.H.1
Hillman, S.L.2
Van Hove, J.L.3
-
30
-
-
0028899006
-
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies
-
Ziadeh R., Hoffman E.P., Finegold D.N., et al. Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. Pediatr Res 37 (1995) 675-678
-
(1995)
Pediatr Res
, vol.37
, pp. 675-678
-
-
Ziadeh, R.1
Hoffman, E.P.2
Finegold, D.N.3
-
31
-
-
39049129568
-
Standardization of outcomes and guidelines for state newborn screening program
-
[Retrieved July 30, 2007]
-
American College of Medical Genetics. Standardization of outcomes and guidelines for state newborn screening program. Fed Regist 70 (2005). Department of Health and Human Services. Available at: www.mchc.hrsa.gov/screening/summary.htm. [Retrieved July 30, 2007]
-
(2005)
Fed Regist
, vol.70
-
-
American College of Medical Genetics1
-
32
-
-
0028237748
-
The enzymes of mitochondrial fatty acid oxidation
-
Bennett M.J. The enzymes of mitochondrial fatty acid oxidation. Clin Chim Acta 226 (1994) 213-224
-
(1994)
Clin Chim Acta
, vol.226
, pp. 213-224
-
-
Bennett, M.J.1
-
33
-
-
0014840975
-
The history of the tricarboxylic acid cycle
-
Krebs H.A. The history of the tricarboxylic acid cycle. Perspect Biol Med 14 (1970) 154-170
-
(1970)
Perspect Biol Med
, vol.14
, pp. 154-170
-
-
Krebs, H.A.1
-
34
-
-
0031043030
-
The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis
-
McGarry J.D., and Brown N.F. The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis. Eur J Biochem 244 (1997) 1-14
-
(1997)
Eur J Biochem
, vol.244
, pp. 1-14
-
-
McGarry, J.D.1
Brown, N.F.2
-
35
-
-
0034947983
-
Molecular characterization of L-CPT I deficiency in six patients: insight into function of the native enzyme
-
Brown N.F., Mullur R.S., Subramanian I., et al. Molecular characterization of L-CPT I deficiency in six patients: insight into function of the native enzyme. J Lipid Res 42 (2001) 1134-1142
-
(2001)
J Lipid Res
, vol.42
, pp. 1134-1142
-
-
Brown, N.F.1
Mullur, R.S.2
Subramanian, I.3
-
36
-
-
0019499706
-
Fasting hypoglycemia resulting from hepatic carnitine palmitoyltransferase deficiency
-
Bougneres P.F., Saudubray J.M., Marsac C., et al. Fasting hypoglycemia resulting from hepatic carnitine palmitoyltransferase deficiency. J Pediatr 98 (1981) 742-746
-
(1981)
J Pediatr
, vol.98
, pp. 742-746
-
-
Bougneres, P.F.1
Saudubray, J.M.2
Marsac, C.3
-
37
-
-
0024316151
-
Deficiency of carnitine palmitoyltransferase I
-
Bonnefont J.P., Haas R., Wolff R., et al. Deficiency of carnitine palmitoyltransferase I. J Child Neurol 4 (1989) 198-203
-
(1989)
J Child Neurol
, vol.4
, pp. 198-203
-
-
Bonnefont, J.P.1
Haas, R.2
Wolff, R.3
-
38
-
-
0019320537
-
Decreased ketogenesis due to deficiency of hepatic carnitine acyltransferase
-
Bougneres P.F., Saudubray J.M., Marsac C., et al. Decreased ketogenesis due to deficiency of hepatic carnitine acyltransferase. N Engl J Med 302 (1980) 123-124
-
(1980)
N Engl J Med
, vol.302
, pp. 123-124
-
-
Bougneres, P.F.1
Saudubray, J.M.2
Marsac, C.3
-
39
-
-
0034837465
-
Hepatic palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific
-
Fingernut R., Roschinger W., Muntau A.C., et al. Hepatic palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific. Clin Chem 47 (2001) 1763-1768
-
(2001)
Clin Chem
, vol.47
, pp. 1763-1768
-
-
Fingernut, R.1
Roschinger, W.2
Muntau, A.C.3
-
40
-
-
18244409132
-
Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community
-
Prip-Buus C., Thuiller L., Abadi N., et al. Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community. Mol Genet Metab 73 (2001) 46-54
-
(2001)
Mol Genet Metab
, vol.73
, pp. 46-54
-
-
Prip-Buus, C.1
Thuiller, L.2
Abadi, N.3
-
41
-
-
18244386522
-
Hepatic carnitine palmitoyltransferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA based newborn screening program
-
Prasad C., Johnson J.P., Bonnefont J.P., et al. Hepatic carnitine palmitoyltransferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA based newborn screening program. Mol Genet Metab 73 (2001) 55-63
-
(2001)
Mol Genet Metab
, vol.73
, pp. 55-63
-
-
Prasad, C.1
Johnson, J.P.2
Bonnefont, J.P.3
-
42
-
-
39049111828
-
Preliminary evidence for high frequency of combined CPT 1 and CPT 2 mutations in the Canadian Inuit. In: IX International Congress on Inborn Errors of Metabolism, Brisbane, Australia, September 2-6, 2003
-
Seargeant L.E., Stier A., Prasad C., et al. Preliminary evidence for high frequency of combined CPT 1 and CPT 2 mutations in the Canadian Inuit. In: IX International Congress on Inborn Errors of Metabolism, Brisbane, Australia, September 2-6, 2003. J Inherit Metab Dis 26 suppl 2 (2003) 197
-
(2003)
J Inherit Metab Dis
, vol.26
, Issue.SUPPL. 2
, pp. 197
-
-
Seargeant, L.E.1
Stier, A.2
Prasad, C.3
-
43
-
-
39049138248
-
-
6th International Congress on Fatty Acid Oxidation, Egmond aan Zee, the Netherlands, 21
-
Sinclair G., Waters P.J., Vallance H., et al. The dilemma of the CPT-1 P479L mutation in Canadian Inuit and First Nations Families. 6th International Congress on Fatty Acid Oxidation, Egmond aan Zee, the Netherlands, 21 (2005)
-
(2005)
The dilemma of the CPT-1 P479L mutation in Canadian Inuit and First Nations Families
-
-
Sinclair, G.1
Waters, P.J.2
Vallance, H.3
-
44
-
-
39049143200
-
-
Gillingham MB, Banta-Wright SA, Bennett MJ, et al. High incidence of the carnitine palmitoyltransferase-1A P479L variant identified in Alaska native infants by expanded newborn screening. In preparation.
-
Gillingham MB, Banta-Wright SA, Bennett MJ, et al. High incidence of the carnitine palmitoyltransferase-1A P479L variant identified in Alaska native infants by expanded newborn screening. In preparation.
-
-
-
-
45
-
-
0000044868
-
Mitochondrial fatty acid oxidation disorders
-
Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York
-
Roe C.R., and Ding J. Mitochondrial fatty acid oxidation disorders. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The metabolic and molecular bases of inherited disease. 9th ed. (2001), McGraw-Hill, New York 2297-2326
-
(2001)
The metabolic and molecular bases of inherited disease. 9th ed.
, pp. 2297-2326
-
-
Roe, C.R.1
Ding, J.2
-
46
-
-
21044445898
-
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency
-
Maier E.M., Leibl B., Roschinger W., et al. Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Hum Mutat 25 (2005) 443-452
-
(2005)
Hum Mutat
, vol.25
, pp. 443-452
-
-
Maier, E.M.1
Leibl, B.2
Roschinger, W.3
-
47
-
-
0036405455
-
The application of tandem mass spectrometry in neonatal screening for inherited disorders of intermediary metabolism
-
Chace D.H., Kalas T.A., and Naylor E.W. The application of tandem mass spectrometry in neonatal screening for inherited disorders of intermediary metabolism. Annu Rev Genomics Hum Genet 3 (2002) 17-45
-
(2002)
Annu Rev Genomics Hum Genet
, vol.3
, pp. 17-45
-
-
Chace, D.H.1
Kalas, T.A.2
Naylor, E.W.3
-
48
-
-
0034865493
-
Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275,000 babies
-
Carpenter K., Wiley V., Sim K.G., et al. Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275,000 babies. Arch Dis Child Fetal Neonatal Ed 85 (2001) F105-F109
-
(2001)
Arch Dis Child Fetal Neonatal Ed
, vol.85
-
-
Carpenter, K.1
Wiley, V.2
Sim, K.G.3
-
49
-
-
0035053241
-
Neonatal screening for medium acyl-CoA deficiency: high incidence in lower Saxony (northern Germany)
-
Sanders S., Janze N., Janetzky B., et al. Neonatal screening for medium acyl-CoA deficiency: high incidence in lower Saxony (northern Germany). Eur J Pediatr 160 (2001) 318-319
-
(2001)
Eur J Pediatr
, vol.160
, pp. 318-319
-
-
Sanders, S.1
Janze, N.2
Janetzky, B.3
-
51
-
-
0025352312
-
The locus for the medium-chain acyl-coA dehydrogenase gene on chromosome 1 is highly polymorphic
-
Kidd J.R., Matsubara Y., Castiglione C.M., et al. The locus for the medium-chain acyl-coA dehydrogenase gene on chromosome 1 is highly polymorphic. Genomics 6 (1990) 89-93
-
(1990)
Genomics
, vol.6
, pp. 89-93
-
-
Kidd, J.R.1
Matsubara, Y.2
Castiglione, C.M.3
-
52
-
-
0034985656
-
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency
-
Andresen B.S., Sobrowolski S.F., O'Reilly L., et al. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet 68 (2001) 1408-1418
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1408-1418
-
-
Andresen, B.S.1
Sobrowolski, S.F.2
O'Reilly, L.3
-
53
-
-
20444487210
-
Medium chain acyl-coA dehydrogenase deficiency found through newborn screening by tandem mass spectrometry in Japan
-
Tajima G., Sakura N., Ono H., et al. Medium chain acyl-coA dehydrogenase deficiency found through newborn screening by tandem mass spectrometry in Japan. J Inherit Metab Dis Suppl 1 (2004) 11
-
(2004)
J Inherit Metab Dis
, Issue.SUPPL. 1
, pp. 11
-
-
Tajima, G.1
Sakura, N.2
Ono, H.3
-
54
-
-
8244255920
-
The molecular basis for medium-chain acyl-coA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
-
Andresen B.S., Bross P., Udvari S., et al. The molecular basis for medium-chain acyl-coA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?. Hum Mol Genet 6 (1997) 695-707
-
(1997)
Hum Mol Genet
, vol.6
, pp. 695-707
-
-
Andresen, B.S.1
Bross, P.2
Udvari, S.3
-
55
-
-
0021831739
-
Genetic deficiency of medium-chain acyl coenzyme a dehydrogenase: studies in cultured skin fibroblasts and peripheral mononuclear leukocytes
-
Coates P.M., Hale D.E., Stanley C.A., et al. Genetic deficiency of medium-chain acyl coenzyme a dehydrogenase: studies in cultured skin fibroblasts and peripheral mononuclear leukocytes. Pediatr Res 19 (1985) 671-676
-
(1985)
Pediatr Res
, vol.19
, pp. 671-676
-
-
Coates, P.M.1
Hale, D.E.2
Stanley, C.A.3
-
56
-
-
0025757318
-
Medium chain acyl-coA dehydrogenase deficiency: postmortem diagnosis in case of sudden infant death and neonatal diagnosis of an affected sibling
-
Bennett M.J., Rinaldo P., Millington D.S., et al. Medium chain acyl-coA dehydrogenase deficiency: postmortem diagnosis in case of sudden infant death and neonatal diagnosis of an affected sibling. Pediatr Pathol 11 (1991) 889-895
-
(1991)
Pediatr Pathol
, vol.11
, pp. 889-895
-
-
Bennett, M.J.1
Rinaldo, P.2
Millington, D.S.3
-
57
-
-
85087193370
-
Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile
-
Rashad M.S., Ozand P.T., Bennett M.J., et al. Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile. Clin Chem 41 8 pt1 (1995) 109-111
-
(1995)
Clin Chem
, vol.41
, Issue.8 pt1
, pp. 109-111
-
-
Rashad, M.S.1
Ozand, P.T.2
Bennett, M.J.3
-
58
-
-
0028265830
-
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children
-
Iafolla A.K., Thompson R.J., and Roe C.R. Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. J Pediatr 124 (1994) 409-415
-
(1994)
J Pediatr
, vol.124
, pp. 409-415
-
-
Iafolla, A.K.1
Thompson, R.J.2
Roe, C.R.3
-
59
-
-
0028859689
-
Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features
-
Christodoulou J., Hoare J., Hammond J., et al. Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features. J Pediatr 126 (1995) 65-68
-
(1995)
J Pediatr
, vol.126
, pp. 65-68
-
-
Christodoulou, J.1
Hoare, J.2
Hammond, J.3
-
60
-
-
0036907283
-
Postmortem screening for fatty acid oxidation disorders by analysis of Guthrie cards with tandem mass spectrometry in sudden unexpected death in infancy
-
Wilcox R.L., Nelson C.C., Stenzel P., and Steiner R.D. Postmortem screening for fatty acid oxidation disorders by analysis of Guthrie cards with tandem mass spectrometry in sudden unexpected death in infancy. J Pediatr 141 (2002) 833-836
-
(2002)
J Pediatr
, vol.141
, pp. 833-836
-
-
Wilcox, R.L.1
Nelson, C.C.2
Stenzel, P.3
Steiner, R.D.4
-
61
-
-
0023948588
-
Investigation of inborn errors of metabolism in unexpected infant deaths
-
Emery J.L., Variend S., Howat A.J., et al. Investigation of inborn errors of metabolism in unexpected infant deaths. Lancet 2 (1988) 29-31
-
(1988)
Lancet
, vol.2
, pp. 29-31
-
-
Emery, J.L.1
Variend, S.2
Howat, A.J.3
-
62
-
-
0025146134
-
Sudden infant death syndrome and inherited disorders of fatty acid b-oxidation
-
Harpey J.P., Charpentier C., and Paturneau-Jouas M. Sudden infant death syndrome and inherited disorders of fatty acid b-oxidation. Biol Neonate 58 Suppl 1 (1990) 70-80
-
(1990)
Biol Neonate
, vol.58
, Issue.SUPPL. 1
, pp. 70-80
-
-
Harpey, J.P.1
Charpentier, C.2
Paturneau-Jouas, M.3
-
63
-
-
0024336465
-
Medium-chain acyl-CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long-term l-carnitine supplementation
-
Treem W.R., Stanley C.A., and Goodman S.I. Medium-chain acyl-CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long-term l-carnitine supplementation. J Inherit Metab Dis 12 (1989) 112-119
-
(1989)
J Inherit Metab Dis
, vol.12
, pp. 112-119
-
-
Treem, W.R.1
Stanley, C.A.2
Goodman, S.I.3
-
64
-
-
0021815720
-
Carnitine deficiency, organic acidemias and Reye's syndrome
-
Stumpf D.A., Parker W.D., and Angelini C. Carnitine deficiency, organic acidemias and Reye's syndrome. Neurology 35 (1985) 1041-1045
-
(1985)
Neurology
, vol.35
, pp. 1041-1045
-
-
Stumpf, D.A.1
Parker, W.D.2
Angelini, C.3
-
65
-
-
0025138201
-
Carnitine homeostasis in the organic acidurias
-
Tanaka K., and Coates P.M. (Eds), Alan R. Liss, New York
-
Roe C.R., Millington D.S., Kahler S.G., et al. Carnitine homeostasis in the organic acidurias. In: Tanaka K., and Coates P.M. (Eds). Fatty acid oxidation: clinical, biochemical and molecular aspects (1990), Alan R. Liss, New York 382-402
-
(1990)
Fatty acid oxidation: clinical, biochemical and molecular aspects
, pp. 382-402
-
-
Roe, C.R.1
Millington, D.S.2
Kahler, S.G.3
-
66
-
-
0027408978
-
Effect of treatment with glycine and l-carnitine in medium-chain acyl-coenzyme a dehydrogenase deficiency
-
Rinaldo R., Schmidt-Sommerfeld E., Posca A.P., et al. Effect of treatment with glycine and l-carnitine in medium-chain acyl-coenzyme a dehydrogenase deficiency. J Pediatr 122 (1993) 580-584
-
(1993)
J Pediatr
, vol.122
, pp. 580-584
-
-
Rinaldo, R.1
Schmidt-Sommerfeld, E.2
Posca, A.P.3
-
67
-
-
21144445376
-
Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice
-
Spieketkoetter U., Tokunaga C., Wendel U., et al. Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice. Ped Res 57 (2005) 760-764
-
(2005)
Ped Res
, vol.57
, pp. 760-764
-
-
Spieketkoetter, U.1
Tokunaga, C.2
Wendel, U.3
-
68
-
-
0141615880
-
MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency
-
Spiekerkoetter U., Sun B., Zytkovicz T., et al. MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. J Peds 143 (2003) 335-342
-
(2003)
J Peds
, vol.143
, pp. 335-342
-
-
Spiekerkoetter, U.1
Sun, B.2
Zytkovicz, T.3
-
69
-
-
0027404491
-
Very-long-chain acyl-coA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts
-
Bertran C., Largilliere C., Zabot M.T., et al. Very-long-chain acyl-coA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts. Biochim Biophys Acta 1180 (1993) 327-329
-
(1993)
Biochim Biophys Acta
, vol.1180
, pp. 327-329
-
-
Bertran, C.1
Largilliere, C.2
Zabot, M.T.3
-
70
-
-
0027295763
-
A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase
-
Aoyama T., Uchida Y., Kelley R.I., et al. A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem Biophys Res Commun 191 (1993) 1369-1372
-
(1993)
Biochem Biophys Res Commun
, vol.191
, pp. 1369-1372
-
-
Aoyama, T.1
Uchida, Y.2
Kelley, R.I.3
-
71
-
-
0026518372
-
Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase
-
Izai K., Uchida Y., Orii T., and Hashimoto. Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase. J Biol Chem 267 (1992) 1027-1033
-
(1992)
J Biol Chem
, vol.267
, pp. 1027-1033
-
-
Izai, K.1
Uchida, Y.2
Orii, T.3
Hashimoto4
-
72
-
-
0028229531
-
Rat very-long-chain acyl-CoA dehydrogenase, a novel mitochondrial acyl-CoA dehydrogenase gene product, is a rate-limiting enzyme in long-chain fatty acid beta-oxidation system. cDNA and deduced amino acid sequence and distinct specificities of the cDNA-expressed protein
-
Aoyama T., Ueno I., Kamijo T., and Hashimoto T. Rat very-long-chain acyl-CoA dehydrogenase, a novel mitochondrial acyl-CoA dehydrogenase gene product, is a rate-limiting enzyme in long-chain fatty acid beta-oxidation system. cDNA and deduced amino acid sequence and distinct specificities of the cDNA-expressed protein. J Biol Chem 269 (1994) 19088-19094
-
(1994)
J Biol Chem
, vol.269
, pp. 19088-19094
-
-
Aoyama, T.1
Ueno, I.2
Kamijo, T.3
Hashimoto, T.4
-
73
-
-
0026718314
-
Fatty acid oxidation disorders: a new class of metabolic diseases
-
Hale D.E., and Bennett M.J. Fatty acid oxidation disorders: a new class of metabolic diseases. J Pediatr 121 (1992) 1-11
-
(1992)
J Pediatr
, vol.121
, pp. 1-11
-
-
Hale, D.E.1
Bennett, M.J.2
-
74
-
-
0027207327
-
Identification of very-long-chain acyl-Coa dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency
-
Yamaguchi S., Idno Y., Coates P.M., et al. Identification of very-long-chain acyl-Coa dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency. Ped Res 34 (1993) 111-113
-
(1993)
Ped Res
, vol.34
, pp. 111-113
-
-
Yamaguchi, S.1
Idno, Y.2
Coates, P.M.3
-
75
-
-
17744413018
-
Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card
-
Wood J.C., Magera M.J., Rinaldo P., et al. Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card. Pediatrics 108 (2001) E19
-
(2001)
Pediatrics
, vol.108
-
-
Wood, J.C.1
Magera, M.J.2
Rinaldo, P.3
-
76
-
-
0035175317
-
A severe genotype with favourable outcome in very long chain acyl-coA dehydrogenase deficiency
-
Touma E.H., Rashed M.S., Vianey-Saban C., et al. A severe genotype with favourable outcome in very long chain acyl-coA dehydrogenase deficiency. Arch Dis Child 84 (2001) 58-60
-
(2001)
Arch Dis Child
, vol.84
, pp. 58-60
-
-
Touma, E.H.1
Rashed, M.S.2
Vianey-Saban, C.3
-
77
-
-
0034917014
-
Sudden death in a Korean infant with very-long-chain acyl-CoA dehydrogenase deficiency
-
Yoon N., Strauss A.W., and Yoo H.W. Sudden death in a Korean infant with very-long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 24 (2001) 407-408
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 407-408
-
-
Yoon, N.1
Strauss, A.W.2
Yoo, H.W.3
-
78
-
-
0032729717
-
Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children
-
Bonnett D., Martin D., de Lonlay P., et al. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation 100 (1999) 2248-2253
-
(1999)
Circulation
, vol.100
, pp. 2248-2253
-
-
Bonnett, D.1
Martin, D.2
de Lonlay, P.3
-
79
-
-
0033497370
-
Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation
-
Hahn S.H., Lee E.H., Jung J.W., et al. Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation. J Peds 135 (1999) 250-253
-
(1999)
J Peds
, vol.135
, pp. 250-253
-
-
Hahn, S.H.1
Lee, E.H.2
Jung, J.W.3
-
80
-
-
0036689452
-
Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly
-
Boles R.G. Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly. J Inherit Metab Dis 25 (2002) 315-316
-
(2002)
J Inherit Metab Dis
, vol.25
, pp. 315-316
-
-
Boles, R.G.1
-
81
-
-
0034866130
-
Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship
-
Gregersen N., Andresen B.S., Corydon M.J., et al. Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Human Mutat 12 (2001) 169-189
-
(2001)
Human Mutat
, vol.12
, pp. 169-189
-
-
Gregersen, N.1
Andresen, B.S.2
Corydon, M.J.3
-
82
-
-
0034782503
-
Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse
-
Cox K.L., Hamm D.A., Millington D.S., et al. Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse. Hum Mol Genet 10 (2001) 2069-2077
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2069-2077
-
-
Cox, K.L.1
Hamm, D.A.2
Millington, D.S.3
-
83
-
-
0033069578
-
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency
-
Andresen B.S., Olpin S., Poorthuis B.J.H.M., et al. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet 64 (1999) 479-494
-
(1999)
Am J Hum Genet
, vol.64
, pp. 479-494
-
-
Andresen, B.S.1
Olpin, S.2
Poorthuis, B.J.H.M.3
-
84
-
-
0034985656
-
Medium-chain acyl-CoA dehydrogenases (MCAD) mutations identified by MS/MS based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency
-
Andresen B.S., Dobrowolski S.F., O'Reilly L., et al. Medium-chain acyl-CoA dehydrogenases (MCAD) mutations identified by MS/MS based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet 68 (2001) 1408-1418
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1408-1418
-
-
Andresen, B.S.1
Dobrowolski, S.F.2
O'Reilly, L.3
-
85
-
-
0025808797
-
Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene and expression of inactive mutant protein in E coli
-
Gregersen N., Andresen B.S., Bross P., et al. Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene and expression of inactive mutant protein in E coli. Hum Genet 86 (1991) 545-551
-
(1991)
Hum Genet
, vol.86
, pp. 545-551
-
-
Gregersen, N.1
Andresen, B.S.2
Bross, P.3
-
86
-
-
0031904074
-
Reversal of severe hypertrophic cardiomyopathy and an excellent neurophysiologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency
-
Cox G.F., Souri M., Aoyama T., et al. Reversal of severe hypertrophic cardiomyopathy and an excellent neurophysiologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 133 (1998) 247-253
-
(1998)
J Pediatr
, vol.133
, pp. 247-253
-
-
Cox, G.F.1
Souri, M.2
Aoyama, T.3
-
87
-
-
0033872050
-
Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: monitoring of treatment by carnitine/acylcarnitine analysis in blood spots
-
Spiekerkotter U., Schwahn B., Korall H., et al. Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: monitoring of treatment by carnitine/acylcarnitine analysis in blood spots. Acta Paediatr 89 (2000) 492-495
-
(2000)
Acta Paediatr
, vol.89
, pp. 492-495
-
-
Spiekerkotter, U.1
Schwahn, B.2
Korall, H.3
|