-
2
-
-
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
-
3
-
-
0029902428
-
Mammalian mitochondrial beta-oxidation
-
Eaton S., Bartlett K., and Pourfarzam M. Mammalian mitochondrial beta-oxidation. Biochem J 320 Pt 2 (1996) 345-357
-
(1996)
Biochem J
, vol.320
, Issue.PART 2
, pp. 345-357
-
-
Eaton, S.1
Bartlett, K.2
Pourfarzam, M.3
-
4
-
-
0018864840
-
Regulation of hepatic fatty acid oxidation and ketone body production
-
McGarry J.D., and Foster D.W. Regulation of hepatic fatty acid oxidation and ketone body production. Annu Rev Biochem 49 (1980) 395-420
-
(1980)
Annu Rev Biochem
, vol.49
, pp. 395-420
-
-
McGarry, J.D.1
Foster, D.W.2
-
5
-
-
0017062640
-
Hyperinsulinism in infancy: diagnosis by demonstration of abnormal response to fasting hypoglycemia
-
Stanley C.A., and Baker L. Hyperinsulinism in infancy: diagnosis by demonstration of abnormal response to fasting hypoglycemia. Pediatrics 57 (1976) 702-711
-
(1976)
Pediatrics
, vol.57
, pp. 702-711
-
-
Stanley, C.A.1
Baker, L.2
-
6
-
-
0028353551
-
Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients
-
Kamijo T., Wanders R.J., Saudubray J.M., Aoyama T., Komiyama A., and Hashimoto T. Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients. J Clin Invest 93 (1994) 1740-1747
-
(1994)
J Clin Invest
, vol.93
, pp. 1740-1747
-
-
Kamijo, T.1
Wanders, R.J.2
Saudubray, J.M.3
Aoyama, T.4
Komiyama, A.5
Hashimoto, T.6
-
7
-
-
0026558042
-
Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria
-
Carpenter K., Pollitt R.J., and Middleton B. Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria. Biochem Biophys Res Commun 183 (1992) 443-448
-
(1992)
Biochem Biophys Res Commun
, vol.183
, pp. 443-448
-
-
Carpenter, K.1
Pollitt, R.J.2
Middleton, B.3
-
8
-
-
0015800677
-
Muscle carnitine palmityltransferase deficiency and myoglobinuria
-
DiMauro S., and DiMauro P.M. Muscle carnitine palmityltransferase deficiency and myoglobinuria. Science 182 (1973) 929-931
-
(1973)
Science
, vol.182
, pp. 929-931
-
-
DiMauro, S.1
DiMauro, P.M.2
-
9
-
-
0027024866
-
Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene
-
Tanaka K., Yokota I., Coates P.M., et al. Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. Hum Mutat 1 (1992) 271-279
-
(1992)
Hum Mutat
, vol.1
, pp. 271-279
-
-
Tanaka, K.1
Yokota, I.2
Coates, P.M.3
-
10
-
-
0024353075
-
Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase
-
Wanders R.J., Duran M., Ijlst L., et al. Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase. Lancet 2 (1989) 52-53
-
(1989)
Lancet
, vol.2
, pp. 52-53
-
-
Wanders, R.J.1
Duran, M.2
Ijlst, L.3
-
11
-
-
0026458561
-
Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation
-
Wanders R.J., Ijlst L., Poggi F., et al. Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation. Biochem Biophys Res Commun 188 (1992) 1139-1145
-
(1992)
Biochem Biophys Res Commun
, vol.188
, pp. 1139-1145
-
-
Wanders, R.J.1
Ijlst, L.2
Poggi, F.3
-
12
-
-
0023184852
-
The inborn errors of mitochondrial fatty acid oxidation
-
Vianey-Liaud C., Divry P., Gregersen N., and Mathieu M. The inborn errors of mitochondrial fatty acid oxidation. J Inherit Metab Dis 10 Suppl.1 (1987) 159-200
-
(1987)
J Inherit Metab Dis
, vol.10
, Issue.SUPPL.1
, pp. 159-200
-
-
Vianey-Liaud, C.1
Divry, P.2
Gregersen, N.3
Mathieu, M.4
-
13
-
-
0842330592
-
Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships
-
Gregersen N., Bross P., and Andresen B.S. Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships. Eur J Biochem 271 (2004) 470-482
-
(2004)
Eur J Biochem
, vol.271
, pp. 470-482
-
-
Gregersen, N.1
Bross, P.2
Andresen, B.S.3
-
14
-
-
0033982975
-
Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy
-
Innes A.M., Seargeant L.E., Balachandra K., et al. Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy. Pediatr Res 47 (2000) 43-45
-
(2000)
Pediatr Res
, vol.47
, pp. 43-45
-
-
Innes, A.M.1
Seargeant, L.E.2
Balachandra, K.3
-
15
-
-
0034837465
-
Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific
-
Fingerhut R., Roschinger W., Muntau A.C., et al. Hepatic carnitine 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
-
-
Fingerhut, R.1
Roschinger, W.2
Muntau, A.C.3
-
16
-
-
0037404560
-
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency
-
Thuillier L., Rostane H., Droin V., et al. Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency. Hum Mutat 21 (2003) 493-501
-
(2003)
Hum Mutat
, vol.21
, pp. 493-501
-
-
Thuillier, L.1
Rostane, H.2
Droin, V.3
-
17
-
-
0033519714
-
A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women
-
Ibdah J.A., Bennett M.J., Rinaldo P., et al. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med 340 (1999) 1723-1731
-
(1999)
N Engl J Med
, vol.340
, pp. 1723-1731
-
-
Ibdah, J.A.1
Bennett, M.J.2
Rinaldo, P.3
-
18
-
-
0032531101
-
Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation
-
Ibdah J.A., Tein I., Dionisi-Vici C., et al. Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation. J Clin Invest 102 (1998) 1193-1199
-
(1998)
J Clin Invest
, vol.102
, pp. 1193-1199
-
-
Ibdah, J.A.1
Tein, I.2
Dionisi-Vici, C.3
-
19
-
-
0036740490
-
Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations
-
Yang Z., Zhao Y., Bennett M.J., Strauss A.W., and Ibdah J.A. Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations. Am J Obstet Gynecol 187 (2002) 715-720
-
(2002)
Am J Obstet Gynecol
, vol.187
, pp. 715-720
-
-
Yang, Z.1
Zhao, Y.2
Bennett, M.J.3
Strauss, A.W.4
Ibdah, J.A.5
-
20
-
-
0028888960
-
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy
-
Sims H.F., Brackett J.C., Powell C.K., et al. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. Proc Natl Acad Sci USA 92 (1995) 841-845
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 841-845
-
-
Sims, H.F.1
Brackett, J.C.2
Powell, C.K.3
-
21
-
-
0028597508
-
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein
-
Ijlst L., Wanders R.J., Ushikubo S., Kamijo T., and Hashimoto T. Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein. Biochim Biophys Acta 1215 (1994) 347-350
-
(1994)
Biochim Biophys Acta
, vol.1215
, pp. 347-350
-
-
Ijlst, L.1
Wanders, R.J.2
Ushikubo, S.3
Kamijo, T.4
Hashimoto, T.5
-
22
-
-
0027207327
-
Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency
-
Yamaguchi S., Indo Y., Coates P.M., Hashimoto T., and Tanaka K. Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 34 (1993) 111-113
-
(1993)
Pediatr Res
, vol.34
, pp. 111-113
-
-
Yamaguchi, S.1
Indo, Y.2
Coates, P.M.3
Hashimoto, T.4
Tanaka, K.5
-
23
-
-
0023092171
-
Acute fatty liver of pregnancy
-
Riely C.A. Acute fatty liver of pregnancy. Semin Liver Dis 7 (1987) 47-54
-
(1987)
Semin Liver Dis
, vol.7
, pp. 47-54
-
-
Riely, C.A.1
-
24
-
-
0029761214
-
Liver disease in pregnancy
-
Knox T.A., and Olans L.B. Liver disease in pregnancy. N Engl J Med 335 (1996) 569-576
-
(1996)
N Engl J Med
, vol.335
, pp. 569-576
-
-
Knox, T.A.1
Olans, L.B.2
-
25
-
-
0026729855
-
Hepatic histopathologic condition does not correlate with laboratory abnormalities in HELLP syndrome (hemolysis, elevated liver enzymes, and low platelet count)
-
Barton J.R., Riely C.A., Adamec T.A., Shanklin D.R., Khoury A.D., and Sibai B.M. Hepatic histopathologic condition does not correlate with laboratory abnormalities in HELLP syndrome (hemolysis, elevated liver enzymes, and low platelet count). Am J Obstet Gynecol 167 (1992) 1538-1543
-
(1992)
Am J Obstet Gynecol
, vol.167
, pp. 1538-1543
-
-
Barton, J.R.1
Riely, C.A.2
Adamec, T.A.3
Shanklin, D.R.4
Khoury, A.D.5
Sibai, B.M.6
-
26
-
-
0024233110
-
Preeclampsia: a microvesicular fat disease of the liver?
-
Minakami H., Oka N., Sato T., Tamada T., Yasuda Y., and Hirota N. Preeclampsia: a microvesicular fat disease of the liver?. Am J Obstet Gynecol 159 (1988) 1043-1047
-
(1988)
Am J Obstet Gynecol
, vol.159
, pp. 1043-1047
-
-
Minakami, H.1
Oka, N.2
Sato, T.3
Tamada, T.4
Yasuda, Y.5
Hirota, N.6
-
27
-
-
0030059319
-
Study of the liver changes occurring in preeclampsia and their possible pathogenetic connection with acute fatty liver of pregnancy
-
Dani R., Mendes G.S., Medeiros Jde L., Peret F.J., and Nunes A. Study of the liver changes occurring in preeclampsia and their possible pathogenetic connection with acute fatty liver of pregnancy. Am J Gastroenterol 91 (1996) 292-294
-
(1996)
Am J Gastroenterol
, vol.91
, pp. 292-294
-
-
Dani, R.1
Mendes, G.S.2
Medeiros Jde, L.3
Peret, F.J.4
Nunes, A.5
-
28
-
-
0023236865
-
Acute fatty liver of pregnancy. A reassessment based on observations in nine patients
-
Riely C.A., Latham P.S., Romero R., and Duffy T.P. Acute fatty liver of pregnancy. A reassessment based on observations in nine patients. Ann Intern Med 106 (1987) 703-706
-
(1987)
Ann Intern Med
, vol.106
, pp. 703-706
-
-
Riely, C.A.1
Latham, P.S.2
Romero, R.3
Duffy, T.P.4
-
29
-
-
0027381213
-
Maternal morbidity and mortality in 442 pregnancies with hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome)
-
Sibai B.M., Ramadan M.K., Usta I., Salama M., Mercer B.M., and Friedman S.A. Maternal morbidity and mortality in 442 pregnancies with hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome). Am J Obstet Gynecol 169 (1993) 1000-1006
-
(1993)
Am J Obstet Gynecol
, vol.169
, pp. 1000-1006
-
-
Sibai, B.M.1
Ramadan, M.K.2
Usta, I.3
Salama, M.4
Mercer, B.M.5
Friedman, S.A.6
-
30
-
-
0028045949
-
Acute fatty liver of pregnancy: an experience in the diagnosis and management of fourteen cases
-
Usta I.M., Barton J.R., Amon E.A., Gonzalez A., and Sibai B.M. Acute fatty liver of pregnancy: an experience in the diagnosis and management of fourteen cases. Am J Obstet Gynecol 171 (1994) 1342-1347
-
(1994)
Am J Obstet Gynecol
, vol.171
, pp. 1342-1347
-
-
Usta, I.M.1
Barton, J.R.2
Amon, E.A.3
Gonzalez, A.4
Sibai, B.M.5
-
31
-
-
0020378963
-
Idiopathic acute fatty liver of pregnancy in 12 patients
-
Burroughs A.K., Seong N.H., Dojcinov D.M., Scheuer P.J., and Sherlock S.V. Idiopathic acute fatty liver of pregnancy in 12 patients. Q J Med 51 (1982) 481-497
-
(1982)
Q J Med
, vol.51
, pp. 481-497
-
-
Burroughs, A.K.1
Seong, N.H.2
Dojcinov, D.M.3
Scheuer, P.J.4
Sherlock, S.V.5
-
32
-
-
0037032383
-
Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease
-
Yang Z., Yamada J., Zhao Y., Strauss A.W., and Ibdah J.A. Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease. J Am Med Assoc 288 (2002) 2163-2166
-
(2002)
J Am Med Assoc
, vol.288
, pp. 2163-2166
-
-
Yang, Z.1
Yamada, J.2
Zhao, Y.3
Strauss, A.W.4
Ibdah, J.A.5
-
33
-
-
0033819252
-
Liver disease in pregnancy and fetal fatty acid oxidation defects
-
Ibdah J.A., Yang Z., and Bennett M.J. Liver disease in pregnancy and fetal fatty acid oxidation defects. Mol Genet Metab 71 (2000) 182-189
-
(2000)
Mol Genet Metab
, vol.71
, pp. 182-189
-
-
Ibdah, J.A.1
Yang, Z.2
Bennett, M.J.3
-
34
-
-
0026085434
-
Recurrent acute fatty liver of pregnancy associated with a fatty-acid oxidation defect in the offspring
-
Schoeman M.N., Batey R.G., and Wilcken B. Recurrent acute fatty liver of pregnancy associated with a fatty-acid oxidation defect in the offspring. Gastroenterology 100 (1991) 544-548
-
(1991)
Gastroenterology
, vol.100
, pp. 544-548
-
-
Schoeman, M.N.1
Batey, R.G.2
Wilcken, B.3
-
35
-
-
0027409820
-
Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency
-
Wilcken B., Leung K.C., Hammond J., Kamath R., and Leonard J.V. Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency. Lancet 341 (1993) 407-408
-
(1993)
Lancet
, vol.341
, pp. 407-408
-
-
Wilcken, B.1
Leung, K.C.2
Hammond, J.3
Kamath, R.4
Leonard, J.V.5
-
36
-
-
0028013251
-
Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
-
Treem W.R., Rinaldo P., Hale D.E., et al. Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Hepatology 19 (1994) 339-345
-
(1994)
Hepatology
, vol.19
, pp. 339-345
-
-
Treem, W.R.1
Rinaldo, P.2
Hale, D.E.3
-
37
-
-
0035089930
-
Molecular prenatal diagnosis in families with fetal mitochondrial trifunctional protein mutations
-
Ibdah J.A., Zhao Y., Viola J., Gibson B., Bennett M.J., and Strauss A.W. Molecular prenatal diagnosis in families with fetal mitochondrial trifunctional protein mutations. J Pediatr 138 (2001) 396-399
-
(2001)
J Pediatr
, vol.138
, pp. 396-399
-
-
Ibdah, J.A.1
Zhao, Y.2
Viola, J.3
Gibson, B.4
Bennett, M.J.5
Strauss, A.W.6
-
38
-
-
0037189988
-
Infant mortality statistics from the 2000 period linked birth/infant death data set
-
Mathews T.J., Menacker F., and MacDorman M.F. Infant mortality statistics from the 2000 period linked birth/infant death data set. Natl Vital Stat Rep 50 (2002) 1-28
-
(2002)
Natl Vital Stat Rep
, vol.50
, pp. 1-28
-
-
Mathews, T.J.1
Menacker, F.2
MacDorman, M.F.3
-
39
-
-
36648999598
-
Post-mortem analysis for two prevalent beta-oxidation mutations in sudden infant death
-
Yang Z., Lantz P.E., and Ibdah J.A. Post-mortem analysis for two prevalent beta-oxidation mutations in sudden infant death. Pediatr Int 49 (2007) 883-887
-
(2007)
Pediatr Int
, vol.49
, pp. 883-887
-
-
Yang, Z.1
Lantz, P.E.2
Ibdah, J.A.3
-
40
-
-
0032729717
-
Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children
-
Bonnet D., Martin D., Pascale De L., 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
-
-
Bonnet, D.1
Martin, D.2
Pascale De, L.3
-
41
-
-
0025011663
-
The laboratory diagnosis of inborn errors of mitochondrial fatty acid oxidation
-
Bennett M.J. The laboratory diagnosis of inborn errors of mitochondrial fatty acid oxidation. Ann Clin Biochem 27 Pt 6 (1990) 519-531
-
(1990)
Ann Clin Biochem
, vol.27
, Issue.PART 6
, pp. 519-531
-
-
Bennett, M.J.1
-
42
-
-
0026621735
-
The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders
-
Millington D.S., Terada N., Chace D.H., et al. The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders. Prog Clin Biol Res 375 (1992) 339-354
-
(1992)
Prog Clin Biol Res
, vol.375
, pp. 339-354
-
-
Millington, D.S.1
Terada, N.2
Chace, D.H.3
-
43
-
-
0031914110
-
Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid beta-oxidation disorders
-
Costa C.G., Dorland L., Holwerda U., et al. Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid beta-oxidation disorders. Clin Chem 44 (1998) 463-471
-
(1998)
Clin Chem
, vol.44
, pp. 463-471
-
-
Costa, C.G.1
Dorland, L.2
Holwerda, U.3
-
44
-
-
0000172359
-
Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation
-
Jones P.M., Quinn R., Fennessey P.V., et al. Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation. Clin Chem 46 (2000) 149-155
-
(2000)
Clin Chem
, vol.46
, pp. 149-155
-
-
Jones, P.M.1
Quinn, R.2
Fennessey, P.V.3
-
45
-
-
0035718040
-
Quantitative determination of plasma c8-c26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders
-
Lagerstedt S.A., Hinrichs D.R., Batt S.M., Magera M.J., Rinaldo P., and McConnell J.P. Quantitative determination of plasma c8-c26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders. Mol Genet Metab 73 (2001) 38-45
-
(2001)
Mol Genet Metab
, vol.73
, pp. 38-45
-
-
Lagerstedt, S.A.1
Hinrichs, D.R.2
Batt, S.M.3
Magera, M.J.4
Rinaldo, P.5
McConnell, J.P.6
-
46
-
-
0023127146
-
Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency
-
Bennett M.J., Allison F., Lowther G.W., et al. Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency. Prenat Diagn 7 (1987) 135-141
-
(1987)
Prenat Diagn
, vol.7
, pp. 135-141
-
-
Bennett, M.J.1
Allison, F.2
Lowther, G.W.3
-
47
-
-
75449123150
-
A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants
-
Guthrie R., and Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32 (1963) 338-343
-
(1963)
Pediatrics
, vol.32
, pp. 338-343
-
-
Guthrie, R.1
Susi, A.2
-
48
-
-
0034521895
-
Disorders of fatty acid transport and mitochondrial oxidation: challenges and dilemmas of metabolic evaluation
-
Rinaldo P., and Matern D. Disorders of fatty acid transport and mitochondrial oxidation: challenges and dilemmas of metabolic evaluation. Genet Med 2 (2000) 338-344
-
(2000)
Genet Med
, vol.2
, pp. 338-344
-
-
Rinaldo, P.1
Matern, D.2
-
49
-
-
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
-
50
-
-
0034956576
-
Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death
-
Chace D.H., DiPerna J.C., Mitchell B.L., Sgroi B., Hofman L.F., and Naylor E.W. Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem 47 (2001) 1166-1182
-
(2001)
Clin Chem
, vol.47
, pp. 1166-1182
-
-
Chace, D.H.1
DiPerna, J.C.2
Mitchell, B.L.3
Sgroi, B.4
Hofman, L.F.5
Naylor, E.W.6
-
51
-
-
0032706073
-
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism
-
Naylor E.W., and Chace D.H. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol 14 Suppl.1 (1999) S4-S8
-
(1999)
J Child Neurol
, vol.14
, Issue.SUPPL.1
-
-
Naylor, E.W.1
Chace, D.H.2
-
52
-
-
0037639877
-
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications
-
Schulze A., Lindner M., Kohlmuller D., Olgemoller K., Mayatepek E., and Hoffmann G.F. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 111 (2003) 1399-1406
-
(2003)
Pediatrics
, vol.111
, pp. 1399-1406
-
-
Schulze, A.1
Lindner, M.2
Kohlmuller, D.3
Olgemoller, K.4
Mayatepek, E.5
Hoffmann, G.F.6
-
53
-
-
0036791226
-
Cost-benefit analysis of universal tandem mass spectrometry for newborn screening
-
Schoen E.J., Baker J.C., Colby C.J., and To T.T. Cost-benefit analysis of universal tandem mass spectrometry for newborn screening. Pediatrics 110 (2002) 781-786
-
(2002)
Pediatrics
, vol.110
, pp. 781-786
-
-
Schoen, E.J.1
Baker, J.C.2
Colby, C.J.3
To, T.T.4
-
54
-
-
4243325434
-
Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy
-
Lamhonwah A.M., Olpin S.E., Pollitt R.J., et al. Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. Am J Med Genet 111 (2002) 271-284
-
(2002)
Am J Med Genet
, vol.111
, pp. 271-284
-
-
Lamhonwah, A.M.1
Olpin, S.E.2
Pollitt, R.J.3
-
55
-
-
0038617400
-
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
-
Gillingham M.B., Connor W.E., Matern D., et al. Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Mol Genet Metab 79 (2003) 114-123
-
(2003)
Mol Genet Metab
, vol.79
, pp. 114-123
-
-
Gillingham, M.B.1
Connor, W.E.2
Matern, D.3
|