-
1
-
-
0025277436
-
Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: Factors and future
-
Jakobs C, Brink HJ, Stellaard F 1990 Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: factors and future. Prenat Diagn 10:265-271
-
(1990)
Prenat Diagn
, vol.10
, pp. 265-271
-
-
Jakobs, C.1
Brink, H.J.2
Stellaard, F.3
-
3
-
-
0025166251
-
Carnitine deficiency in inherited organic acid disorders and Reye syndrome
-
Sugiyama N, Kidouchi K, Kobayashi M, Wada Y 1990 Carnitine deficiency in inherited organic acid disorders and Reye syndrome. Acta Paediatr Jpn 32:410-416
-
(1990)
Acta Paediatr Jpn
, vol.32
, pp. 410-416
-
-
Sugiyama, N.1
Kidouchi, K.2
Kobayashi, M.3
Wada, Y.4
-
4
-
-
0026329324
-
Prenatal diagnosis of isovaleric acidemia by fast atom bombardment and tandem mass spectrometry
-
Shigematsu Y, Kikawa Y, Sudo M, Kanaoka H, Fujioka M, Ma D 1991 Prenatal diagnosis of isovaleric acidemia by fast atom bombardment and tandem mass spectrometry. Clin Chim Acta 203:369-374
-
(1991)
Clin Chim Acta
, vol.203
, pp. 369-374
-
-
Shigematsu, Y.1
Kikawa, Y.2
Sudo, M.3
Kanaoka, H.4
Fujioka, M.5
Ma, D.6
-
5
-
-
0027302571
-
Acylcarnitines in amniotic fluid: Application to the prenatal diagnosis of propionic acidemia
-
Van Hove JLK, Chace DH, Kahler SG, Millington DS 1993 Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidemia. J Inhert Metab Dis 16:361-367
-
(1993)
J Inhert Metab Dis
, vol.16
, pp. 361-367
-
-
Van Hove, J.L.K.1
Chace, D.H.2
Kahler, S.G.3
Millington, D.S.4
-
6
-
-
0024573511
-
Methylcitrate in maternal urine during a pregnancy with a fetus affected with propionic acidaemia
-
Aramaki S, Lehotay D, Nyhan WL, MacLeod PM, Sweetman L 1989 Methylcitrate in maternal urine during a pregnancy with a fetus affected with propionic acidaemia. J Inhert Metab Dis 112:86-88
-
(1989)
J Inhert Metab Dis
, vol.112
, pp. 86-88
-
-
Aramaki, S.1
Lehotay, D.2
Nyhan, W.L.3
MacLeod, P.M.4
Sweetman, L.5
-
7
-
-
0025898638
-
Analysis of acylcarnitines in maternal urine for prenatal diagnosis of glutaric aciduria type 2
-
Sakuma T, Sugiyama N, Ichiki T, Kobayashi M, Wada Y, Nohara D 1991 Analysis of acylcarnitines in maternal urine for prenatal diagnosis of glutaric aciduria type 2. Prenat Diagn 11:77-82
-
(1991)
Prenat Diagn
, vol.11
, pp. 77-82
-
-
Sakuma, T.1
Sugiyama, N.2
Ichiki, T.3
Kobayashi, M.4
Wada, Y.5
Nohara, D.6
-
8
-
-
0016712053
-
Prenatal diagnosis and family studies in a case of propionic acidemia
-
Gompertz D, Goodey PA, Thom H, Russell G, Johnston AW, Mellor DH, MacLean MW, Ferguson-Smith ME, Ferguson-Smith MA 1975 Prenatal diagnosis and family studies in a case of propionic acidemia. Clin Genet 8:244-250
-
(1975)
Clin Genet
, vol.8
, pp. 244-250
-
-
Gompertz, D.1
Goodey, P.A.2
Thom, H.3
Russell, G.4
Johnston, A.W.5
Mellor, D.H.6
MacLean, M.W.7
Ferguson-Smith, M.E.8
Ferguson-Smith, M.A.9
-
9
-
-
0023902689
-
First trimester diagnosis of methylmalonic aciduria
-
Fowler B, Giles L, Sardharwalla IB, Donnai P, Clayton JK 1988 First trimester diagnosis of methylmalonic aciduria. Prenat Diagn 8:207-213
-
(1988)
Prenat Diagn
, vol.8
, pp. 207-213
-
-
Fowler, B.1
Giles, L.2
Sardharwalla, I.B.3
Donnai, P.4
Clayton, J.K.5
-
10
-
-
0025994665
-
Prenatal diagnosis and neonatal monitoring of a fetus with glutaric aciduria type II due to electron transfer flavoprotein (β-subunit) deficiency
-
Yamaguchi S, Shimizu N, Orii T, Fukao T, Suzuki Y, Maeda K, Hashimoto T, Previs SF, Rinaldo P 1991 Prenatal diagnosis and neonatal monitoring of a fetus with glutaric aciduria type II due to electron transfer flavoprotein (β-subunit) deficiency. Pediatr Res 30:439-443
-
(1991)
Pediatr Res
, vol.30
, pp. 439-443
-
-
Yamaguchi, S.1
Shimizu, N.2
Orii, T.3
Fukao, T.4
Suzuki, Y.5
Maeda, K.6
Hashimoto, T.7
Previs, S.F.8
Rinaldo, P.9
-
11
-
-
84989038934
-
Electrospray mass spectra of medium-chain and long-chain acylcarnitine
-
Kelly BM, Rose ME, Wycherley D 1992 Electrospray mass spectra of medium-chain and long-chain acylcarnitine. Org Mass Spectrom 27:924-926
-
(1992)
Org Mass Spectrom
, vol.27
, pp. 924-926
-
-
Kelly, B.M.1
Rose, M.E.2
Wycherley, D.3
-
12
-
-
84990689305
-
Electrospray tandem mass spectrometry in the diagnosis of organic acidemias
-
Rashed MS, Ozand PT, Harrison ME, Watkins PJF, Evans S 1994 Electrospray tandem mass spectrometry in the diagnosis of organic acidemias. Rapid Commun Mass Spectrom 8:129-133
-
(1994)
Rapid Commun Mass Spectrom
, vol.8
, pp. 129-133
-
-
Rashed, M.S.1
Ozand, P.T.2
Harrison, M.E.3
Watkins, P.J.F.4
Evans, S.5
-
13
-
-
0029121111
-
Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry
-
Rashed MS, Ozand PT, Bucknall MP, Little D 1995 Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res 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
-
14
-
-
0024789350
-
Prenatal diagnosis of inherited metabolic disorders by stable isotope dilution GC-MS analysis of metabolites in amniotic fluid: Review of four years experience
-
Jakobs C 1989 Prenatal diagnosis of inherited metabolic disorders by stable isotope dilution GC-MS analysis of metabolites in amniotic fluid: review of four years experience. J Inhert Metab Dis 2(suppl):267:270
-
(1989)
J Inhert Metab Dis
, vol.2
, Issue.SUPPL.
, pp. 267
-
-
Jakobs, C.1
-
15
-
-
0014289456
-
Propionylcarnitine. Physiological variations in vivo
-
Bohmer T, Bremer J 1968 Propionylcarnitine. Physiological variations in vivo. Biochim Biophys Acta 152:559-567
-
(1968)
Biochim Biophys Acta
, vol.152
, pp. 559-567
-
-
Bohmer, T.1
Bremer, J.2
-
16
-
-
0026004398
-
Synthesis, characterisation and high-performance liquid chromatography of C6-C16 dicarboxylyl-mono-coenzyme A and -monocarnitine esters
-
Pourfarzam M, Bartlett K 1991 Synthesis, characterisation and high-performance liquid chromatography of C6-C16 dicarboxylyl-mono-coenzyme A and -monocarnitine esters. J Chromatogr Biomed Appl 570:253-276
-
(1991)
J Chromatogr Biomed Appl
, vol.570
, pp. 253-276
-
-
Pourfarzam, M.1
Bartlett, K.2
-
17
-
-
0024344870
-
Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to analysis of acylcarnitines in human urine, blood, and tissue
-
Millington DS, Norwood DL, Kodo N, Roe CR, Inoue F 1989 Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to analysis of acylcarnitines in human urine, blood, and tissue. Anal Biochem 180:331-339
-
(1989)
Anal Biochem
, vol.180
, pp. 331-339
-
-
Millington, D.S.1
Norwood, D.L.2
Kodo, N.3
Roe, C.R.4
Inoue, F.5
-
18
-
-
0027286040
-
Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method
-
Schmidt-Sommerfeld E, Penn D, Duran M, Bennett MJ, Santer R, Stanley CA 1993 Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method. J Pediatr 122:708-714
-
(1993)
J Pediatr
, vol.122
, pp. 708-714
-
-
Schmidt-Sommerfeld, E.1
Penn, D.2
Duran, M.3
Bennett, M.J.4
Santer, R.5
Stanley, C.A.6
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