-
1
-
-
0004020471
-
-
Springer, Germany
-
Fernandes J., Saudubray J.M., van den Berghe G., Walter J.H. Inborn Metabolic Disease 2006, Springer, Germany. fourth ed.
-
(2006)
Inborn Metabolic Disease
-
-
Fernandes, J.1
Saudubray, J.M.2
van den Berghe, G.3
Walter, J.H.4
-
2
-
-
0029121111
-
Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and aminoacids profiling using automated elecrospray tandem mass spectrometry
-
Rashed M.S., Ozand P.T., Bucknall M.P., Little D. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and aminoacids profiling using automated elecrospray tandem mass spectrometry. Pediatr. Res. 1995, 38:324-331.
-
(1995)
Pediatr. Res.
, vol.38
, pp. 324-331
-
-
Rashed, M.S.1
Ozand, P.T.2
Bucknall, M.P.3
Little, D.4
-
3
-
-
0036405455
-
The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism
-
Chace D.H., Kalas T.A., Naylor E.W. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu. Rev. Genomics Hum. Genet. 2002, 3:17-45.
-
(2002)
Annu. Rev. Genomics Hum. Genet.
, vol.3
, pp. 17-45
-
-
Chace, D.H.1
Kalas, T.A.2
Naylor, E.W.3
-
4
-
-
36348934149
-
Separation and identification of plasma short-chain acylcarnitine isomers by HPLC-MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias
-
Ferrer I., Ruiz-Sala P., Vicente Y., Merinero B., Perez-Cerda C., Ugarte M. Separation and identification of plasma short-chain acylcarnitine isomers by HPLC-MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias. J. Chromatogr. B 2007, 860:121-126.
-
(2007)
J. Chromatogr. B
, vol.860
, pp. 121-126
-
-
Ferrer, I.1
Ruiz-Sala, P.2
Vicente, Y.3
Merinero, B.4
Perez-Cerda, C.5
Ugarte, M.6
-
5
-
-
33847391557
-
Simultaneous quantification of acylcarnitine isomers containing dicarboxylic acylcarnitines in human serum and urine by high performance liquid chromatography/electrospray ionization tandem mass spectrometry
-
Maeda Y., Ito T., Suzuki A., Kurono Y., Ueta A., Yokoi K., et al. Simultaneous quantification of acylcarnitine isomers containing dicarboxylic acylcarnitines in human serum and urine by high performance liquid chromatography/electrospray ionization tandem mass spectrometry. Rapid Commun. Mass Spectrom. 2007, 21(5):799-806.
-
(2007)
Rapid Commun. Mass Spectrom.
, vol.21
, Issue.5
, pp. 799-806
-
-
Maeda, Y.1
Ito, T.2
Suzuki, A.3
Kurono, Y.4
Ueta, A.5
Yokoi, K.6
-
6
-
-
0031752221
-
Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening program
-
Abendur J.E., Chamoles N.A., Guinle A.E., Schenone A.B., Fuertes A.N.J. Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening program. J. Inherit. Metab. Dis. 1998, 21:624-630.
-
(1998)
J. Inherit. Metab. Dis.
, vol.21
, pp. 624-630
-
-
Abendur, J.E.1
Chamoles, N.A.2
Guinle, A.E.3
Schenone, A.B.4
Fuertes, A.N.J.5
-
7
-
-
32944481866
-
Falsely elevated C4-carnitine as expression of Glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening [Letter]
-
Malvagia S., La Marca G., Casetta B., Gasperini S., Pasquini E., Donati M.A., Zammarchi E. Falsely elevated C4-carnitine as expression of Glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening [Letter]. J. Mass Spectrom. 2006, 41:263-265.
-
(2006)
J. Mass Spectrom.
, vol.41
, pp. 263-265
-
-
Malvagia, S.1
La Marca, G.2
Casetta, B.3
Gasperini, S.4
Pasquini, E.5
Donati, M.A.6
Zammarchi, E.7
-
8
-
-
51649085510
-
Short-Chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening of clinical symptoms
-
Waisbren S.E., Levy H.L., Noble M., Matern D., Gregersen N., Pasley K., Marsden D., et al. Short-Chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening of clinical symptoms. Mol. Genet. Metab. 2008, 95(1-2):39-45.
-
(2008)
Mol. Genet. Metab.
, vol.95
, Issue.1-2
, pp. 39-45
-
-
Waisbren, S.E.1
Levy, H.L.2
Noble, M.3
Matern, D.4
Gregersen, N.5
Pasley, K.6
Marsden, D.7
-
9
-
-
0037389601
-
The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C4-acylcarnitine concentration in newborn blood spots
-
Nagan N., Kruckeberg K.E., Tauscher A.L., Bailey K.S., Rinaldo P. The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C4-acylcarnitine concentration in newborn blood spots. MGM 2003, 78:239-246.
-
(2003)
MGM
, vol.78
, pp. 239-246
-
-
Nagan, N.1
Kruckeberg, K.E.2
Tauscher, A.L.3
Bailey, K.S.4
Rinaldo, P.5
-
10
-
-
33847081531
-
Development of a newborn screening follow up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency
-
Oglesbee D., et al. Development of a newborn screening follow up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet. Med. 2007, 9(2):108-116.
-
(2007)
Genet. Med.
, vol.9
, Issue.2
, pp. 108-116
-
-
Oglesbee, D.1
-
11
-
-
0038757594
-
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the human population by newborn screening using tandem mass spectrometry
-
Matern D., He M., Berry S.A., Rinaldo P., Whitley C.B., Madsen P.P., et al. Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the human population by newborn screening using tandem mass spectrometry. Pediatrics 2003, 112:74-78.
-
(2003)
Pediatrics
, vol.112
, pp. 74-78
-
-
Matern, D.1
He, M.2
Berry, S.A.3
Rinaldo, P.4
Whitley, C.B.5
Madsen, P.P.6
-
12
-
-
33847168609
-
2-Methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screening
-
van Calcar S.C., Gleason L.A., Lindh H., Hoffman G., Rhead W., Vockley G., Wolff J.A., Durkin M.S. 2-Methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screening. WMJ 2007, 106:12-15.
-
(2007)
WMJ
, vol.106
, pp. 12-15
-
-
van Calcar, S.C.1
Gleason, L.A.2
Lindh, H.3
Hoffman, G.4
Rhead, W.5
Vockley, G.6
Wolff, J.A.7
Durkin, M.S.8
-
13
-
-
37049001052
-
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism
-
Sass J.O., Ensenauer R., Röschinger W., Reich H., Steuerwald U., Schirrmacher O., et al. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. MGM 2008, 93:30-35.
-
(2008)
MGM
, vol.93
, pp. 30-35
-
-
Sass, J.O.1
Ensenauer, R.2
Röschinger, W.3
Reich, H.4
Steuerwald, U.5
Schirrmacher, O.6
-
14
-
-
33646533134
-
Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity
-
Vockley J., Esenauer R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am. J. Med. Genet. 2006, 142C:95-103.
-
(2006)
Am. J. Med. Genet.
, vol.142
, Issue.C
, pp. 95-103
-
-
Vockley, J.1
Esenauer, R.2
-
15
-
-
0036890172
-
Pivalate-generating prodrugs and carnitine homeostasis in man
-
Brass E.P. Pivalate-generating prodrugs and carnitine homeostasis in man. Pharmacol. Rev. 2002, 54:589-598.
-
(2002)
Pharmacol. Rev.
, vol.54
, pp. 589-598
-
-
Brass, E.P.1
-
16
-
-
34548697737
-
Stable-isotope dilution measurement of isovalerylglycine by tandem mass spectrometry in newborn screening for isovaleric acidemia
-
Shigematsu Y., Hata I., Tanaka Y. Stable-isotope dilution measurement of isovalerylglycine by tandem mass spectrometry in newborn screening for isovaleric acidemia. Clin. Chim. Acta 2007, 386:82-86.
-
(2007)
Clin. Chim. Acta
, vol.386
, pp. 82-86
-
-
Shigematsu, Y.1
Hata, I.2
Tanaka, Y.3
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