-
1
-
-
2342633725
-
Inborn errors of metabolism: An update on epidemiology and on neonatal-onset hyperammonemia
-
10.1080/08035320310021183 1:STN:280:DC%2BD2czhsVKjtA%3D%3D
-
F Deodato S Boenzi C Rizzo D Abeni S Caviglia S Picca A Bartuli C Dionisi-Vici 2004 Inborn errors of metabolism: an update on epidemiology and on neonatal-onset hyperammonemia Acta Paediatr Suppl 93 18 21 10.1080/ 08035320310021183 1:STN:280:DC%2BD2czhsVKjtA%3D%3D
-
(2004)
Acta Paediatr Suppl
, vol.93
, pp. 18-21
-
-
Deodato, F.1
Boenzi, S.2
Rizzo, C.3
Abeni, D.4
Caviglia, S.5
Picca, S.6
Bartuli, A.7
Dionisi-Vici, C.8
-
2
-
-
0023814174
-
Nuclear magnetic resonance spectroscopy in the study of inborn errors of metabolism
-
1:CAS:528:DyaL1cXlt1Wlsw%3D%3D
-
RA Iles RA Chalmers 1988 Nuclear magnetic resonance spectroscopy in the study of inborn errors of metabolism Clin Sci (Lond) 74 1 10 1:CAS:528:DyaL1cXlt1Wlsw%3D%3D
-
(1988)
Clin Sci (Lond)
, vol.74
, pp. 1-10
-
-
Iles, R.A.1
Chalmers, R.A.2
-
3
-
-
0022470534
-
1H-FT-NMR spectrometry
-
10.1007/BF00439397 1:CAS:528:DyaL2sXivFCqtg%3D%3D
-
1H-FT-NMR spectrometry Eur J Pediatr 145 260 266 10.1007/BF00439397 1:CAS:528:DyaL2sXivFCqtg%3D%3D
-
(1986)
Eur J Pediatr
, vol.145
, pp. 260-266
-
-
Lehnert, W.1
Hunkler, D.2
-
4
-
-
40449129783
-
NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism
-
DOI 10.1002/nbm.1170
-
UF Engelke JO Sass RN Van Coster E Gerlo H Olbrich S Krywawych J Calvin C Hart H Omran RA Wevers 2008 NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism NMR Biomed 21 138 147 10.1002/nbm.1170 1:CAS:528:DC%2BD1cXkt1Sku78%3D (Pubitemid 351351006)
-
(2008)
NMR in Biomedicine
, vol.21
, Issue.2
, pp. 138-147
-
-
Engelke, U.F.H.1
Sass, J.O.2
Van Coster, R.N.3
Gerlo, E.4
Olbrich, H.5
Krywawych, S.6
Calvin, J.7
Hart, C.8
Omran, H.9
Wevers, R.A.10
-
5
-
-
0030612194
-
1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism
-
DOI 10.1023/A:1005313524869
-
1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism J Inherit Metab Dis 20 345 350 10.1023/A:1005313524869 1:STN:280:DyaK2svhtFektg%3D%3D (Pubitemid 27354612)
-
(1997)
Journal of Inherited Metabolic Disease
, vol.20
, Issue.3
, pp. 345-350
-
-
Wevers, R.A.1
Engelke, U.2
Rotteveel, J.J.3
Heerschap, A.4
De Jong, J.G.N.5
Abeling, N.G.G.M.6
Van Gennip, A.H.7
De Abreu, R.A.8
-
6
-
-
0037225665
-
Proton nuclear magnetic resonance spectroscopy of body fluids in the field of inborn errors of metabolism
-
DOI 10.1258/000456303321016132
-
SH Moolenaar UF Engelke RA Wevers 2003 Proton nuclear magnetic resonance spectroscopy of body fluids in the field of inborn errors of metabolism Ann Clin Biochem 40 16 24 10.1258/000456303321016132 1:CAS:528:DC%2BD3sXhtVyks7k%3D (Pubitemid 36051406)
-
(2003)
Annals of Clinical Biochemistry
, vol.40
, Issue.1
, pp. 16-24
-
-
Moolenaar, S.H.1
Engelke, U.F.H.2
Wevers, R.A.3
-
8
-
-
0036153487
-
Proton nuclear magnetic resonance spectroscopic detection of sialic acid storage disease
-
1:CAS:528:DC%2BD38XhtVyhsrk%3D
-
AC Sewell HC Murphy RA Iles 2002 Proton nuclear magnetic resonance spectroscopic detection of sialic acid storage disease Clin Chem 48 357 359 1:CAS:528:DC%2BD38XhtVyhsrk%3D
-
(2002)
Clin Chem
, vol.48
, pp. 357-359
-
-
Sewell, A.C.1
Murphy, H.C.2
Iles, R.A.3
-
9
-
-
33846986484
-
1H NMR-based metabonomics: Recommendations for sample preparation and storage
-
DOI 10.1021/ac061354x
-
1H NMR-based metabonomics: recommendations for sample preparation and storage Anal Chem 79 1181 1186 10.1021/ac061354x 1:CAS:528:DC%2BD2sXlsVGr (Pubitemid 46254423)
-
(2007)
Analytical Chemistry
, vol.79
, Issue.3
, pp. 1181-1186
-
-
Lauridsen, M.1
Hansen, S.H.2
Jaroszewski, J.W.3
Cornett, C.4
-
10
-
-
34548515288
-
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: A four-year report
-
DOI 10.1007/s10545-007-0543-9
-
LS Han J Ye WJ Qiu XL Gao Y Wang XF Gu 2007 Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report J Inherit Metab Dis 30 507 514 10.1007/s10545-007- 0543-9 1:STN:280:DC%2BD2sritVersg%3D%3D (Pubitemid 47377045)
-
(2007)
Journal of Inherited Metabolic Disease
, vol.30
, Issue.4
, pp. 507-514
-
-
Han, L.S.1
Ye, J.2
Qiu, W.J.3
Gao, X.L.4
Wang, Y.5
Gu, X.F.6
-
11
-
-
28844443876
-
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper
-
DOI 10.1016/j.ymgme.2005.09.011, PII S1096719205003057
-
MR Zurfluh M Giovannini L Fiori B Fiege Y Gokdemir T Baykal L Kierat KH Gartner B Thony N Blau 2005 Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper Mol Genet Metab 86 Suppl 1 S96 S103 10.1016/j.ymgme.2005.09.011 (Pubitemid 41771117)
-
(2005)
Molecular Genetics and Metabolism
, vol.86
, Issue.SUPPL.
-
-
Zurfluh, M.R.1
Giovannini, M.2
Fiori, L.3
Fiege, B.4
Gokdemir, Y.5
Baykal, T.6
Kierat, L.7
Gartner, K.H.8
Thony, B.9
Blau, N.10
-
12
-
-
0036513183
-
Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients
-
1:STN:280:DC%2BD383js12huw%3D%3D
-
JL Dhondt JM Hayte 2002 Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients Ann Biol Clin (Paris) 60 165 171 1:STN:280:DC%2BD383js12huw%3D%3D
-
(2002)
Ann Biol Clin (Paris)
, vol.60
, pp. 165-171
-
-
Dhondt, J.L.1
Hayte, J.M.2
-
13
-
-
0034901631
-
Usefulness of blood and urine samples collected on filter paper in detecting cytomegalovirus by the polymerase chain reaction technique
-
DOI 10.1016/S0166-0934(01)00347-0, PII S0166093401003470
-
AY Yamamoto MM Mussi-Pinhata PC Pinto LT Figueiredo SM Jorge 2001 Usefulness of blood and urine samples collected on filter paper in detecting cytomegalovirus by the polymerase chain reaction technique J Virol Methods 97 159 164 10.1016/S0166-0934(01)00347-0 1:CAS:528:DC%2BD3MXls1eis7s%3D (Pubitemid 32718750)
-
(2001)
Journal of Virological Methods
, vol.97
, Issue.1-2
, pp. 159-164
-
-
Yamamoto, A.Y.1
Mussi-Pinhata, M.M.2
Pinto, P.C.G.3
Figueiredo, L.T.M.4
Jorge, S.M.5
-
15
-
-
59949096357
-
Five cases of beta-ureidopropionase deficiency detected by GC/MS analysis of urine metabolome
-
10.1002/jms.1500
-
T Kuhara M Ohse Y Inoue T Shinka 2008 Five cases of beta-ureidopropionase deficiency detected by GC/MS analysis of urine metabolome J Mass Spectrom 44 214 221 10.1002/jms.1500
-
(2008)
J Mass Spectrom
, vol.44
, pp. 214-221
-
-
Kuhara, T.1
Ohse, M.2
Inoue, Y.3
Shinka, T.4
-
16
-
-
27744453895
-
Radioimmunoassay of estrone conjugates from urine dried on filter paper
-
DOI 10.1002/ajp.20173
-
CD Knott 2005 Radioimmunoassay of estrone conjugates from urine dried on filter paper Am J Primatol 67 121 135 10.1002/ajp.20173 1:CAS:528: DC%2BD2MXhtFKktLzI (Pubitemid 41653012)
-
(2005)
American Journal of Primatology
, vol.67
, Issue.1
, pp. 121-135
-
-
Knott, C.D.1
-
17
-
-
7044247759
-
Analysis of pyrimidine synthesis "de novo" intermediates in urine and dried urine filter-paper strips with HPLC-electrospray tandem mass spectrometry
-
DOI 10.1373/clinchem.2004.038869
-
AB van Kuilenburg H van Lenthe M Loffler AH van Gennip 2004 Analysis of pyrimidine synthesis "de novo" intermediates in urine and dried urine filter-paper strips with HPLC-electrospray tandem mass spectrometry Clin Chem 50 2117 2124 10.1373/clinchem.2004.038869 (Pubitemid 39425850)
-
(2004)
Clinical Chemistry
, vol.50
, Issue.11
, pp. 2117-2124
-
-
Van Kuilenburg, A.B.P.1
Van Lenthe, H.2
Loffler, M.3
Van Gennip, A.H.4
-
18
-
-
34548498128
-
Quebec neonatal mass urinary screening programme: From micromolecules to macromolecules
-
DOI 10.1007/s10545-007-0607-x
-
C Auray-Blais D Cyr R Drouin 2007 Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules J Inherit Metab Dis 30 515 521 10.1007/s10545-007-0607-x 1:STN:280:DC%2BD2sritVKkug%3D%3D (Pubitemid 47377046)
-
(2007)
Journal of Inherited Metabolic Disease
, vol.30
, Issue.4
, pp. 515-521
-
-
Auray-Blais, C.1
Cyr, D.2
Drouin, R.3
-
19
-
-
0017261384
-
Comparison of laboratory methods in the diagnosis of urinary tract infection
-
10.1136/jcp.29.4.286 1:STN:280:DyaE283htlOisg%3D%3D
-
BI Duerden A Moyes 1976 Comparison of laboratory methods in the diagnosis of urinary tract infection J Clin Pathol 29 286 291 10.1136/jcp.29.4.286 1:STN:280:DyaE283htlOisg%3D%3D
-
(1976)
J Clin Pathol
, vol.29
, pp. 286-291
-
-
Duerden, B.I.1
Moyes, A.2
-
20
-
-
0035987965
-
Gas chromatographic-mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples
-
DOI 10.1023/A:1015620609075
-
T Kuhara M Ohse Y Inoue T Yorifuji N Sakura H Mitsubuchi F Endo J Ishimatu 2002 Gas chromatographic-mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples J Inherit Metab Dis 25 98 106 10.1023/A:1015620609075 1:CAS:528:DC%2BD38XltlSrurg%3D (Pubitemid 34700298)
-
(2002)
Journal of Inherited Metabolic Disease
, vol.25
, Issue.2
, pp. 98-106
-
-
Kuhara, T.1
Ohse, M.2
Inoue, Y.3
Yorifuji, T.4
Sakura, N.5
Mitsubuchi, H.6
Endo, F.7
Ishimatu, J.8
-
21
-
-
0035811993
-
Gas chromatographic-mass spectrometric screening for organic acidemias using dried urine filter paper: Determination of α-ketoacids
-
DOI 10.1016/S0378-4347(01)00101-3, PII S0378434701001013
-
X Fu M Kimura M Iga S Yamaguchi 2001 Gas chromatographic-mass spectrometric screening for organic acidemias using dried urine filter paper: determination of alpha-ketoacids J Chromatogr B Biomed Sci Appl 758 87 94 10.1016/S0378-4347(01)00101-3 1:CAS:528:DC%2BD3MXjvV2msb8%3D (Pubitemid 32510855)
-
(2001)
Journal of Chromatography B: Biomedical Sciences and Applications
, vol.758
, Issue.1
, pp. 87-94
-
-
Fu, X.1
Kimura, M.2
Iga, M.3
Yamaguchi, S.4
-
22
-
-
0031765454
-
Experimental protocol for clinical analysis of cerebrospinal fluid by high resolution proton magnetic resonance spectroscopy
-
DOI 10.1016/S1385-299X(98)00033-6, PII S1385299X98000336
-
S Maillet J Vion-Dury S Confort-Gouny F Nicoli NW Lutz P Viout PJ Cozzone 1998 Experimental protocol for clinical analysis of cerebrospinal fluid by high resolution proton magnetic resonance spectroscopy Brain Res Brain Res Protoc 3 123 134 10.1016/S1385-299X(98)00033-6 1:CAS:528:DyaK1MXhtV2msA%3D%3D (Pubitemid 28527094)
-
(1998)
Brain Research Protocols
, vol.3
, Issue.2
, pp. 123-134
-
-
Maillet, S.1
Vion-Dury, J.2
Confort-Gouny, S.3
Nicoli, F.4
Lutz, N.W.5
Viout, P.6
Cozzone, P.J.7
-
24
-
-
0020475449
-
A simple method for displaying the hydropathic character of a protein
-
10.1016/0022-2836(82)90515-0 1:CAS:528:DyaL38Xks1yjtro%3D
-
J Kyte RF Doolittle 1982 A simple method for displaying the hydropathic character of a protein J Mol Biol 157 105 132 10.1016/0022-2836(82)90515-0 1:CAS:528:DyaL38Xks1yjtro%3D
-
(1982)
J Mol Biol
, vol.157
, pp. 105-132
-
-
Kyte, J.1
Doolittle, R.F.2
|