-
1
-
-
0036975534
-
Plasma pipecolic acid is frequently elevated in non-peroxisomal disease
-
Baas, J.C.M., van de Laar, R., Doralnd, L., Duran, M., Berger, R., Poll-The, B.T., and de Konig, T.J. 2002. Plasma pipecolic acid is frequently elevated in non-peroxisomal disease. J. Inherit. Metab. Dis. 25:699-701.
-
(2002)
J. Inherit. Metab. Dis.
, vol.25
, pp. 699-701
-
-
Baas, J.C.M.1
van de Laar, R.2
Doralnd, L.3
Duran, M.4
Berger, R.5
Poll-The, B.T.6
de Konig, T.J.7
-
2
-
-
0022490924
-
Simple diagnosis of the Zellweger syndrome by gas-liquid chromatography of dimethylacetals
-
Bjorkhem, I., Sisfontes, L., Bostrom, B., Kase, B.F., and Blomstrand, R. 1986. Simple diagnosis of the Zellweger syndrome by gas-liquid chromatography of dimethylacetals. J. Lipid Res. 27:786-791.
-
(1986)
J. Lipid Res.
, vol.27
, pp. 786-791
-
-
Bjorkhem, I.1
Sisfontes, L.2
Bostrom, B.3
Kase, B.F.4
Blomstrand, R.5
-
3
-
-
0016615916
-
Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acidmetabolism
-
Danks, D.M., Tippett, P., Adams, C., and Campbell, P. 1975. Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acidmetabolism. J. Pediatr. 86:382-387.
-
(1975)
J. Pediatr.
, vol.86
, pp. 382-387
-
-
Danks, D.M.1
Tippett, P.2
Adams, C.3
Campbell, P.4
-
4
-
-
0036210851
-
Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and betaoxidation systems in patients suffering from different peroxisomal disorders
-
Ferdinandusse, S., Rusch, H., van Lint, A.E., Dacremont, G., Wanders, R.J., and Vreken, P. 2002. Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and betaoxidation systems in patients suffering from different peroxisomal disorders. J. Lipid Res. 43:438-444.
-
(2002)
J. Lipid Res.
, vol.43
, pp. 438-444
-
-
Ferdinandusse, S.1
Rusch, H.2
van Lint, A.E.3
Dacremont, G.4
Wanders, R.J.5
Vreken, P.6
-
5
-
-
33747017220
-
Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders
-
Hubbard, W.C., Moser, A.B., Tortorelli, S., Liu, A., Jones, D., and Moser, H. 2006. Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders. Mol. Genet. Metab. 89:185-187.
-
(2006)
Mol. Genet. Metab.
, vol.89
, pp. 185-187
-
-
Hubbard, W.C.1
Moser, A.B.2
Tortorelli, S.3
Liu, A.4
Jones, D.5
Moser, H.6
-
6
-
-
0002599476
-
Quantification of pipecolic acid in plasma and urine by isotope-dilution gas chromatography/mass spectrometry
-
(F.A.Hommes, ed.) pages Wiley-Liss
-
Kelley, R.I. 1991. Quantification of pipecolic acid in plasma and urine by isotope-dilution gas chromatography/mass spectrometry. In Techniques in Diagnostic Human Biochemical Genetics (F.A.Hommes, ed.) pages 205-218.Wiley-Liss.
-
(1991)
In Techniques in Diagnostic Human Biochemical Genetics
, pp. 205-218
-
-
Kelley, R.I.1
-
7
-
-
0023275086
-
Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine, and amniotic fluid using electron capture negative ionmass fragmentrography
-
Kok, R.M., deJung, A.P., Poll-Thé, B. Saudubray, J.M., and Jakobs, C. 1987. Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine, and amniotic fluid using electron capture negative ionmass fragmentrography. Clin. Chim. Acta 168:143-152.
-
(1987)
Clin. Chim. Acta
, vol.168
, pp. 143-152
-
-
Kok, R.M.1
deJung, A.P.2
Poll-Thé, B.3
Saudubray, J.M.4
Jakobs, C.5
-
8
-
-
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. 2001. Quantitative determination of plasma C8-C26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders. Mol. Genet. Metab. 73:38-45.
-
(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
-
9
-
-
33644821320
-
Mutations in antiquitin in individuals with pyridoxine-dependent seizures
-
Mills, P.B., Stuys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner,M.,Willemsen,M.A.A.P., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B, and Clayton, P.T. 2006. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nature Med. 12:307-309.
-
(2006)
Nature Med.
, vol.12
, pp. 307-309
-
-
Mills, P.B.1
Stuys, E.2
Jakobs, C.3
Plecko, B.4
Baxter, P.5
Baumgartner, M.6
Willemsen, M.A.A.P.7
Omran, H.8
Tacke, U.9
Uhlenberg, B.10
Weschke, B.11
Clayton, P.T.12
-
11
-
-
0002622130
-
Measurement of saturated very long chain fatty acids in plasma
-
In Wiley-Liss, New York
-
Moser, H.W. and Moser, A.B. 1991b. Measurement of saturated very long chain fatty acids in plasma. In Techniques in Diagnostic Human Biochemical Genetics, pages 177-191. Wiley-Liss, New York.
-
(1991)
Techniques in Diagnostic Human Biochemical Genetics
, pp. 177-191
-
-
Moser, H.W.1
Moser, A.B.2
-
12
-
-
22844449328
-
Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil
-
Moser, H.W., Raymond, G.V., Lu, S.E., Muenz, L.R., Moser, A.B., Xu, J., Jones, R.O., Loes, D.J., Melhem, E.R., Dubey, P., Bezman, L., Brereton, N.H., and Odone, A. 2005. Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil. Arch Neurol. 62:1073-1080.
-
(2005)
Arch Neurol.
, vol.62
, pp. 1073-1080
-
-
Moser, H.W.1
Raymond, G.V.2
Lu, S.E.3
Muenz, L.R.4
Moser, A.B.5
Xu, J.6
Jones, R.O.7
Loes, D.J.8
Melhem, E.R.9
Dubey, P.10
Bezman, L.11
Brereton, N.H.12
Odone, A.13
-
13
-
-
33845336846
-
Peroxisome biogenesis disorders
-
Steinberg, S.J., Dodt, G., Raymond, G.V., Braverman, N.E., Moser, A.B., and Moser, H.W. 2006. Peroxisome biogenesis disorders. Biochem. Biophys. Acta. 1763:1733-1748.
-
(2006)
Biochem. Biophys. Acta.
, vol.1763
, pp. 1733-1748
-
-
Steinberg, S.J.1
Dodt, G.2
Raymond, G.V.3
Braverman, N.E.4
Moser, A.B.5
Moser, H.W.6
-
14
-
-
0027221839
-
Increased very long chain fatty acids in patients on a ketogenic diet: A cause of diagnostic confusion
-
Theda, C., Woody, R.C., Naidu, S., Moser, A.B., and Moser, H.W. 1993. Increased very long chain fatty acids in patients on a ketogenic diet: A cause of diagnostic confusion. J. Pediatr. 122:724-726.
-
(1993)
J. Pediatr.
, vol.122
, pp. 724-726
-
-
Theda, C.1
Woody, R.C.2
Naidu, S.3
Moser, A.B.4
Moser, H.W.5
-
15
-
-
12144289941
-
Identification of PEX7 as the second gene involved in Refsum disease
-
Van den Brink, D.M., Brites, P., Haasjes, J., Wierzbicki, A.S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J., Jansen, G.A., Waterham, H.R., and Wanders, R.J. 2003. Identification of PEX7 as the second gene involved in Refsum disease. Adv. Exp. Med. Biol. 544:69-70.
-
(2003)
Adv. Exp. Med. Biol.
, vol.544
, pp. 69-70
-
-
Van den Brink, D.M.1
Brites, P.2
Haasjes, J.3
Wierzbicki, A.S.4
Mitchell, J.5
Lambert-Hamill, M.6
de Belleroche, J.7
Jansen, G.A.8
Waterham, H.R.9
Wanders, R.J.10
-
16
-
-
2142697998
-
Metabolic and molecular basis of peroxisomal disorders: A review
-
Wanders, R.J.A. 2004. Metabolic and molecular basis of peroxisomal disorders: A review. Am. J. Med. Genet. 126A:355-375.
-
(2004)
Am. J. Med. Genet.
, vol.126 A
, pp. 355-375
-
-
Wanders, R.J.A.1
-
17
-
-
0022975755
-
Age-related differences in plasmalogen content of erythrocytes from patients with the cerebro-hepato-renal (Zellweger) syndrome: Implications for postnatal detection of the disease
-
Wanders, R.J., Purvis, Y.R., Heymans, H.S., Bakkeren, J.A., Parmentier, G.G., van Eldere, J., Eyssen, H., van den Bosch, H., Tager, J.M., and Schutgens, R.B. 1986. Age-related differences in plasmalogen content of erythrocytes from patients with the cerebro-hepato-renal (Zellweger) syndrome: Implications for postnatal detection of the disease. J. Inherit. Metab. Dis. 9:335-342.
-
(1986)
J. Inherit. Metab. Dis.
, vol.9
, pp. 335-342
-
-
Wanders, R.J.1
Purvis, Y.R.2
Heymans, H.S.3
Bakkeren, J.A.4
Parmentier, G.G.5
van Eldere, J.6
Eyssen, H.7
van den Bosch, H.8
Tager, J.M.9
Schutgens, R.B.10
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