-
1
-
-
0018140922
-
Methylmalonate excretion in a pregnancy at risk for methylmalonic acidaemia
-
Bakker, H. D., van Gennip, A. H., Duran, M., & Wadman, S. K. (1978). Methylmalonate excretion in a pregnancy at risk for methylmalonic acidaemia. Clinica Chimica Acta, 86, 349-352.
-
(1978)
Clinica Chimica Acta
, vol.86
, pp. 349-352
-
-
Bakker, H.D.1
van Gennip, A.H.2
Duran, M.3
Wadman, S.K.4
-
2
-
-
73649130979
-
Metabolomics: moving towards personalized medicine
-
Baraldi, E., Carraro, S., Giordano, G., Reniero, F., Perilongo, G., & Zacchello, F. (2009). Metabolomics: moving towards personalized medicine. Italian Journal of Pediatrics, 35, 30-34.
-
(2009)
Italian Journal of Pediatrics
, vol.35
, pp. 30-34
-
-
Baraldi, E.1
Carraro, S.2
Giordano, G.3
Reniero, F.4
Perilongo, G.5
Zacchello, F.6
-
3
-
-
0037350844
-
Partial least squares for discrimination
-
Barker, M., & Rayens, W. (2003). Partial least squares for discrimination. Journal of Chemometrics, 17, 166-173.
-
(2003)
Journal of Chemometrics
, vol.17
, pp. 166-173
-
-
Barker, M.1
Rayens, W.2
-
4
-
-
10644254418
-
Metabolomic approaches to mitochondrial disease: Correlation of urine organic acids
-
Barshop, B. A. (2004). Metabolomic approaches to mitochondrial disease: Correlation of urine organic acids. Mitochondrion, 4, 521-527.
-
(2004)
Mitochondrion
, vol.4
, pp. 521-527
-
-
Barshop, B.A.1
-
7
-
-
0017179985
-
Urinary organic acid in man II. Effects of individual variation on diet on the urinary excretion of acidic metabolites
-
Chalmers, R. A., Healy, M. J. R., Lawson, A. M., & Watts, R. W. E. (1976). Urinary organic acid in man II. Effects of individual variation on diet on the urinary excretion of acidic metabolites. Clinical Chemistry, 22, 1288-1291.
-
(1976)
Clinical Chemistry
, vol.22
, pp. 1288-1291
-
-
Chalmers, R.A.1
Healy, M.J.R.2
Lawson, A.M.3
Watts, R.W.E.4
-
8
-
-
21244436700
-
Performance of some variable selection methods when multicollinearity is present
-
Chong, I. G., & Jun, C. H. (2005). Performance of some variable selection methods when multicollinearity is present. Chemometrics and Intelligent Laboratory Systems, 78, 103-112.
-
(2005)
Chemometrics and Intelligent Laboratory Systems
, vol.78
, pp. 103-112
-
-
Chong, I.G.1
Jun, C.H.2
-
9
-
-
0018595957
-
Inhibition by propionyl-coenzyme A of N-acetylglutamate synthase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia
-
Coude, F. X., Sweetman, L., & Nyhan, W. L. (1979). Inhibition by propionyl-coenzyme A of N-acetylglutamate synthase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia. Journal of Clinical Investigation, 64, 1544-1551.
-
(1979)
Journal of Clinical Investigation
, vol.64
, pp. 1544-1551
-
-
Coude, F.X.1
Sweetman, L.2
Nyhan, W.L.3
-
10
-
-
84867880801
-
Clinical variability of isovaleric acidimia in a genetically homogeneous population
-
Dercksen, M., Duran, M., Ijlst, L., Mienie, L. J., Reinecke, C. J., Ruiter, J. P. N., et al. (2012). Clinical variability of isovaleric acidimia in a genetically homogeneous population. Journal of Inherited Metabolic Diseases, 35, 1021-1029.
-
(2012)
Journal of Inherited Metabolic Diseases
, vol.35
, pp. 1021-1029
-
-
Dercksen, M.1
Duran, M.2
Ijlst, L.3
Mienie, L.J.4
Reinecke, C.J.5
Ruiter, J.P.N.6
-
11
-
-
0018733251
-
3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency: Postnatal management following prenatal diagnosis by analysis of maternal urine
-
Duran, M., Schutgens, R. B. H., Ketel, A., et al. (1979). 3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency: Postnatal management following prenatal diagnosis by analysis of maternal urine. The Journal of Pediatrics, 95, 1004-1007.
-
(1979)
The Journal of Pediatrics
, vol.95
, pp. 1004-1007
-
-
Duran, M.1
Schutgens, R.B.H.2
Ketel, A.3
-
12
-
-
35448968480
-
Practical significance (effect size) versus or in combination with statistical significance (p values)
-
Ellis, S. M., & Steyn, H. S. (2003). Practical significance (effect size) versus or in combination with statistical significance (p values). Management Dynamics, 12, 51-53.
-
(2003)
Management Dynamics
, vol.12
, pp. 51-53
-
-
Ellis, S.M.1
Steyn, H.S.2
-
13
-
-
8844230268
-
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening
-
Ensenauer, R., Vockley, J., Willard, J., et al. (2004). A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. American Journal of Human Genetics, 75, 1136-1142.
-
(2004)
American Journal of Human Genetics
, vol.75
, pp. 1136-1142
-
-
Ensenauer, R.1
Vockley, J.2
Willard, J.3
-
14
-
-
0028233223
-
Age-related reference values for urinary organic acids in a healthy Turkish pediatric population
-
Guneral, F., & Bachman, C. (1994). Age-related reference values for urinary organic acids in a healthy Turkish pediatric population. Clinical Chemistry, 40, 862-868.
-
(1994)
Clinical Chemistry
, vol.40
, pp. 862-868
-
-
Guneral, F.1
Bachman, C.2
-
15
-
-
60749134721
-
Influence of honey on suppression of human low density lipoprotein (LDL) peroxidation (in vitro)
-
Hegazi, A. G., & Abd El-Hady, F. K. (2009). Influence of honey on suppression of human low density lipoprotein (LDL) peroxidation (in vitro). Evidence-Based Complementary and Alternative Medicine, 6, 113-121.
-
(2009)
Evidence-Based Complementary and Alternative Medicine
, vol.6
, pp. 113-121
-
-
Hegazi, A.G.1
Abd El-Hady, F.K.2
-
16
-
-
0345930496
-
Organic acid analysis
-
N. Blau, M. Duran, and M. E. Blaskovic (Eds.), Berlin: Springer
-
Hoffman, G. F., & Feyh, P. (2002). Organic acid analysis. In N. Blau, M. Duran, & M. E. Blaskovic (Eds.), Physician's guide to the laboratory diagnosis of metabolic diseases (pp. 27-44). Berlin: Springer.
-
(2002)
Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases
, pp. 27-44
-
-
Hoffman, G.F.1
Feyh, P.2
-
19
-
-
2942676743
-
Metabolomics and systems biology: making sense of the soup
-
Kell, D. B. (2004). Metabolomics and systems biology: making sense of the soup. Current Opinion in Microbiology, 7, 296-307.
-
(2004)
Current Opinion in Microbiology
, vol.7
, pp. 296-307
-
-
Kell, D.B.1
-
20
-
-
34447542843
-
Metabolomic biomarkers: search, discovery and validation
-
Kell, D. B. (2007). Metabolomic biomarkers: search, discovery and validation. Expert Review of Molecular Diagnostics, 7, 329-333.
-
(2007)
Expert Review of Molecular Diagnostics
, vol.7
, pp. 329-333
-
-
Kell, D.B.1
-
21
-
-
84863325972
-
Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects
-
Knerr, I., Weinhold, N., Vockley, J., & Gibson, K. M. (2012). Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects. Journal of Inherited Metabolic Diseases, 35, 29-40.
-
(2012)
Journal of Inherited Metabolic Diseases
, vol.35
, pp. 29-40
-
-
Knerr, I.1
Weinhold, N.2
Vockley, J.3
Gibson, K.M.4
-
22
-
-
45449105757
-
A semi-parametric method for transforming data to normality
-
Koekemoer, G., & Swanepoel, J. W. H. (2008). A semi-parametric method for transforming data to normality. Statistics and Computing, 18, 241-257.
-
(2008)
Statistics and Computing
, vol.18
, pp. 241-257
-
-
Koekemoer, G.1
Swanepoel, J.W.H.2
-
23
-
-
84860363810
-
Concurrent class analysis identifies discriminatory variables from metabolomics data on isovaleric acidemia
-
Koekemoer, G., Dercksen, M., Allison, J., Santana, L., & Reinecke, C. J. (2012). Concurrent class analysis identifies discriminatory variables from metabolomics data on isovaleric acidemia. Metabolomics, 8, S17-S28.
-
(2012)
Metabolomics
, vol.8
-
-
Koekemoer, G.1
Dercksen, M.2
Allison, J.3
Santana, L.4
Reinecke, C.J.5
-
24
-
-
67349268807
-
Abnormal tricarboxylic acid cycle metabolites in isovaleric acidemia
-
Loots, D. T. (2009). Abnormal tricarboxylic acid cycle metabolites in isovaleric acidemia. Journal of Inherited Metabolic Diseases, 3, 402-411.
-
(2009)
Journal of Inherited Metabolic Diseases
, vol.3
, pp. 402-411
-
-
Loots, D.T.1
-
25
-
-
23044444836
-
Identification of 19 new metabolites induced by abnormal amino acid conjugation in isovaleric acidemia
-
Loots, D. T., Erasmus, E., & Mienie, L. J. (2005). Identification of 19 new metabolites induced by abnormal amino acid conjugation in isovaleric acidemia. Clinical Chemistry, 51, 1510-1512.
-
(2005)
Clinical Chemistry
, vol.51
, pp. 1510-1512
-
-
Loots, D.T.1
Erasmus, E.2
Mienie, L.J.3
-
26
-
-
84863308641
-
Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients
-
Luís, P. B., Ruiter, J. P., Ijlst, L., Diogo, L., Garcia, P., de Almeida, I. T., et al. (2012). Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients. Journal of Inherited Metabolic Disease, 35, 443-449.
-
(2012)
Journal of Inherited Metabolic Disease
, vol.35
, pp. 443-449
-
-
Luís, P.B.1
Ruiter, J.P.2
Ijlst, L.3
Diogo, L.4
Garcia, P.5
de Almeida, I.T.6
-
27
-
-
79251595354
-
The role of metabolites and metabolomics in clinical applicable biomarkers of disease
-
Mamas, M., Dunn, W. B., Neyses, L., & Goodacre, R. (2011). The role of metabolites and metabolomics in clinical applicable biomarkers of disease. Archives of Toxicology, 85, 5-17.
-
(2011)
Archives of Toxicology
, vol.85
, pp. 5-17
-
-
Mamas, M.1
Dunn, W.B.2
Neyses, L.3
Goodacre, R.4
-
28
-
-
33847327365
-
Benchmarks for the assessment of novel cardiovascular biomarkers
-
Morrow, D. A., & de Lemos, J. A. (2007). Benchmarks for the assessment of novel cardiovascular biomarkers. Circulation, 115, 949-952.
-
(2007)
Circulation
, vol.115
, pp. 949-952
-
-
Morrow, D.A.1
de Lemos, J.A.2
-
29
-
-
0036015842
-
Utilization of sterol carrier protein-2 by phytanoyl-CoA 2-hydroxylase in the peroxisomal α-oxidation of phytanic acid
-
Mukherji, M., Kershaw, N. J., Schofield, C. J., Wierzbicki, A. S., & Lloyd, M. D. (2002). Utilization of sterol carrier protein-2 by phytanoyl-CoA 2-hydroxylase in the peroxisomal α-oxidation of phytanic acid. Chemistry & Biology, 9, 597-605.
-
(2002)
Chemistry & Biology
, vol.9
, pp. 597-605
-
-
Mukherji, M.1
Kershaw, N.J.2
Schofield, C.J.3
Wierzbicki, A.S.4
Lloyd, M.D.5
-
30
-
-
0022423090
-
3-Hydroxyhexanoic acid: An abnormal metabolite in urine and serum of diabetic ketoacidotic patients
-
Niwa, T., & Yamada, K. (1985). 3-Hydroxyhexanoic acid: An abnormal metabolite in urine and serum of diabetic ketoacidotic patients. Journal of Chromatography, 337, 1-7.
-
(1985)
Journal of Chromatography
, vol.337
, pp. 1-7
-
-
Niwa, T.1
Yamada, K.2
-
31
-
-
0020001560
-
Cobalamin (vitamin B12) deficiency detected by urinary methylmalonic acid quantitation
-
Norman, E. L., Martelo, O. J., & Denton, M. D. (1982). Cobalamin (vitamin B12) deficiency detected by urinary methylmalonic acid quantitation. Blood, 59, 1128-1131.
-
(1982)
Blood
, vol.59
, pp. 1128-1131
-
-
Norman, E.L.1
Martelo, O.J.2
Denton, M.D.3
-
33
-
-
33846064843
-
Principal component analysis of urine metabolites detected by NMR and DESI-MS in patients with inborn errors of metabolism
-
Pan, Z., Gu, H., Talaty, N., Chen, H., Shanaiah, N., Hainline, B. E., et al. (2007). Principal component analysis of urine metabolites detected by NMR and DESI-MS in patients with inborn errors of metabolism. Analytical and Bioanalytical Chemistry, 387, 539-549.
-
(2007)
Analytical and Bioanalytical Chemistry
, vol.387
, pp. 539-549
-
-
Pan, Z.1
Gu, H.2
Talaty, N.3
Chen, H.4
Shanaiah, N.5
Hainline, B.E.6
-
34
-
-
0036841898
-
Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry
-
Pitt, J. J., Eggington, M., & Kahler, S. G. (2002). Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry. Clinical Chemistry, 48, 1970-1980.
-
(2002)
Clinical Chemistry
, vol.48
, pp. 1970-1980
-
-
Pitt, J.J.1
Eggington, M.2
Kahler, S.G.3
-
35
-
-
0024845583
-
Studies on methylmalonic acid in humans. I. Concentrations in serum and urinary excretion in normal subjects after feeding and during fasting, and after loading with protein, fat, sugar, isoleucine and valine
-
Rasmunsen, K. (1989). Studies on methylmalonic acid in humans. I. Concentrations in serum and urinary excretion in normal subjects after feeding and during fasting, and after loading with protein, fat, sugar, isoleucine and valine. Clinical Chemistry, 35, 2271-2276.
-
(1989)
Clinical Chemistry
, vol.35
, pp. 2271-2276
-
-
Rasmunsen, K.1
-
36
-
-
84857794136
-
Metabolomics of urinary organic acids in disorders of the respiratory chain
-
Reinecke, C. J., Koekemoer, G., van der Westhuizen, F. H., et al. (2012). Metabolomics of urinary organic acids in disorders of the respiratory chain. Metabolomics, 8, 264-283.
-
(2012)
Metabolomics
, vol.8
, pp. 264-283
-
-
Reinecke, C.J.1
Koekemoer, G.2
van der Westhuizen, F.H.3
-
37
-
-
0033929488
-
Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet
-
Robinson, M., White, F. J., Cleary, M. A., Wraith, E., Lam, W. K., & Walter, J. H. (2000). Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet. The Journal of Pediatrics, 136, 545-547.
-
(2000)
The Journal of Pediatrics
, vol.136
, pp. 545-547
-
-
Robinson, M.1
White, F.J.2
Cleary, M.A.3
Wraith, E.4
Lam, W.K.5
Walter, J.H.6
-
38
-
-
0025601656
-
Structural and stereoisometric specificity of serum-borne sugar acids related to feeding control in rats
-
Sakata, T. (1990). Structural and stereoisometric specificity of serum-borne sugar acids related to feeding control in rats. Brain Research Bulletin, 25, 969-974.
-
(1990)
Brain Research Bulletin
, vol.25
, pp. 969-974
-
-
Sakata, T.1
-
39
-
-
0003720078
-
-
New York: McGraw-Hill
-
Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, K., Kinzler, K. W. E., et al. (2001). The metabolic and molecular basis of inherited disease. New York: McGraw-Hill.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
-
-
Scriver, C.R.1
Beaudet, A.L.2
Sly, W.S.3
Valle, D.4
Childs, K.5
Kinzler, K.W.E.6
-
40
-
-
33847002010
-
Systematic identification of conserved metabolites in GC/MS data for metabolomics and biomarker discovery
-
Styczynski, M. P., Moxley, J. F., Tong, L. V., Walther, J. L., Jensen, K. L., & Stephanopoulos, G. N. (2007). Systematic identification of conserved metabolites in GC/MS data for metabolomics and biomarker discovery. Analytical Chemistry, 79, 966-973.
-
(2007)
Analytical Chemistry
, vol.79
, pp. 966-973
-
-
Styczynski, M.P.1
Moxley, J.F.2
Tong, L.V.3
Walther, J.L.4
Jensen, K.L.5
Stephanopoulos, G.N.6
-
41
-
-
0003237157
-
Branched chain organic acidurias
-
In C. R. Scriver, A. L. Beaudet, D. Valle, W. S. Sly, B. Childs, K. Kinzler, K. W. E. (Eds.) McGraw-Hill, New York
-
Sweetman, L., & Williams, J. C. (2001) Branched chain organic acidurias. In C. R. Scriver, A. L. Beaudet, D. Valle, W. S. Sly, B. Childs, K. Kinzler, K. W. E. (Eds.) The metabolic and molecular basis of inherited disease (pp. 2125-2163). McGraw-Hill, New York.
-
(2001)
The metabolic and molecular basis of inherited disease
, pp. 2125-2163
-
-
Sweetman, L.1
Williams, J.C.2
-
42
-
-
0013923852
-
Isovaleric acidemia: a new genetic defect of the leucine metabolism
-
Tanaka, K., Budd, M. A., Efron, M. L., & Isselbacher, K. J. (1966). Isovaleric acidemia: a new genetic defect of the leucine metabolism. Proceedings of the National Academy of Sciences of the United States of America, 56, 236-242.
-
(1966)
Proceedings of the National Academy of Sciences of the United States of America
, vol.56
, pp. 236-242
-
-
Tanaka, K.1
Budd, M.A.2
Efron, M.L.3
Isselbacher, K.J.4
-
43
-
-
0023742108
-
Molecular basis of isovaleric acidemia in the study of the acyl-CoA dehydrogenase family
-
Tanaka, K., Ikeda, Y., Matsubara, Y., & Hyman, D. (1988). Molecular basis of isovaleric acidemia in the study of the acyl-CoA dehydrogenase family. Advanced Neurology, 48, 107-131.
-
(1988)
Advanced Neurology
, vol.48
, pp. 107-131
-
-
Tanaka, K.1
Ikeda, Y.2
Matsubara, Y.3
Hyman, D.4
-
44
-
-
0019482697
-
New metabolites in isovaleric acidemia
-
Truscott, R. J., Malegan, D., McCairns, E., Burke, D., Hick, L., Sims, P., et al. (1981). New metabolites in isovaleric acidemia. Clinica Chimica Acta, 110, 187-203.
-
(1981)
Clinica Chimica Acta
, vol.110
, pp. 187-203
-
-
Truscott, R.J.1
Malegan, D.2
McCairns, E.3
Burke, D.4
Hick, L.5
Sims, P.6
-
45
-
-
33747019547
-
Centering, scaling, and transformations: improving the biological information content of metabolomics data
-
van den Berg, R. A., Hoefsloot, H. C. J., Westerhuis, J. A., Smilde, A. K., & van der Werf, M. J. (2006). Centering, scaling, and transformations: improving the biological information content of metabolomics data. BMC Genomics, 7, 141-157.
-
(2006)
BMC Genomics
, vol.7
, pp. 141-157
-
-
van den Berg, R.A.1
Hoefsloot, H.C.J.2
Westerhuis, J.A.3
Smilde, A.K.4
van der Werf, M.J.5
-
46
-
-
34547539880
-
Biomarkers, metabonomics, and drug development: Can inborn errors of metabolism help in understanding drug toxicity?
-
Vangala, S., & Tonelli, A. (2007). Biomarkers, metabonomics, and drug development: Can inborn errors of metabolism help in understanding drug toxicity? AAPS Journal, 9, E284-E297.
-
(2007)
AAPS Journal
, vol.9
-
-
Vangala, S.1
Tonelli, A.2
-
47
-
-
33646533134
-
Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity
-
Vockley, J., & Ensenauer, R. (2006). Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity. American Journal of Medical Genetics Part C, 142C, 95-103.
-
(2006)
American Journal of Medical Genetics Part C
, vol.142 C
, pp. 95-103
-
-
Vockley, J.1
Ensenauer, R.2
-
49
-
-
0019755541
-
Nutritional significance of fructose and sugar alcohols
-
Wang, Y., & van Eys, J. (1981). Nutritional significance of fructose and sugar alcohols. Annual Review of Nutrition, 1, 437-475.
-
(1981)
Annual Review of Nutrition
, vol.1
, pp. 437-475
-
-
Wang, Y.1
van Eys, J.2
-
50
-
-
0016973661
-
Pattern recognition by means of disjoint principal component models
-
Wold, S. (1976). Pattern recognition by means of disjoint principal component models. Pattern Recognition, 8, 127-139.
-
(1976)
Pattern Recognition
, vol.8
, pp. 127-139
-
-
Wold, S.1
|