NMR SPECTROSCOPY FOR DIAGNOSIS AND MONITORING OF METABOLITES IN SOME INBORN ERRORS OF METABOLISM: OTC DEFICIENCY, GALACTOSEMIA AND ALKAPTONURIA

被引：0
|
作者：
Vulturar, R. [1 ]
Nicolescu, A. [3 ]
Avram, P. [2 ]
Deleanu, C. [4 ]
机构：
[1] I Hatieganu UMP, Dept Cell Molec Biol, Cluj Napoca, Romania
[2] A Rusescu Inst Mother & Child Care, Bucharest, Romania
[3] Petru Poni Inst Macromolec Chem, Iasi, Romania
[4] CD Nenitescu Inst Org Chem, Bucharest, Romania
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2011年 / 34卷
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中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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页码：S270 / S270
页数：1
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  • [1] USING THE NMR SPECTROSCOPY IN DIAGNOSIS OF INBORN ERRORS OF METABOLISM
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    Nicolescu, A.
    Garaeva, S.
    Redcozubova, G.
    Postolache, G.
    Szoenyi, L.
    Deleanu, C.
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S164 - S164
  • [2] NMR Spectroscopy in diagnosis of several inborn errors of metabolism: methylmalonic acidurias, ketolysis defect
    Vulturar, R. C.
    Nicolescu, A. P.
    Karg, E.
    Andreica, S.
    Dreghiciu, D.
    Nascu, I.
    Deleanu, C.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 895 - 895
  • [3] NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism
    Engelke, Udo F. H.
    Sass, Joern Oliver
    Van Coster, Rudy N.
    Gerlo, Erik
    Olbrich, Heike
    Krywawych, Stefan
    Calvin, Jacqui
    Hart, Claire
    Omrans, Heymut
    Wevers, Ron A.
    [J]. NMR IN BIOMEDICINE, 2008, 21 (02) : 138 - 147
  • [4] Use of nuclear magnetic resonance spectroscopy in diagnosis of inborn errors of metabolism
    Speyer, Cameron B.
    Baleja, James D.
    [J]. EMERGING TOPICS IN LIFE SCIENCES, 2021, 5 (01) : 39 - 48
  • [5] ENZYMATIC DIAGNOSIS OF SOME INBORN-ERRORS OF LIPID-METABOLISM
    CAREY, WF
    HILL, GN
    CROSER, A
    POLLARD, AC
    [J]. PATHOLOGY, 1975, 7 (03) : 249 - 249
  • [6] SIMPLIFIED CHROMATOGRAPHIC SCREENING TEST FOR DIAGNOSIS OF SOME INBORN ERRORS OF METABOLISM
    STUBER, A
    [J]. CLINICA CHIMICA ACTA, 1969, 24 (02) : 221 - &
  • [7] Diagnosing inborn errors of lipid metabolism using 1H-NMR spectroscopy
    Engelke, U. F. H.
    Oostendorp, M.
    Willemsen, M. A. A. P.
    Morava, E.
    Wevers, R. A.
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 : 125 - 125
  • [8] β-ureidopropionase deficiency:: A novel inborn error of metabolism discovered using NMR spectroscopy on urine
    Moolenaar, SH
    Göhlich-Ratmann, G
    Engelke, UFH
    Spraul, M
    Humpfer, E
    Dvortsak, P
    Voit, T
    Hoffmann, GF
    Bräutigam, C
    van Kuilenburg, AB
    van Gennip, A
    Vreken, P
    Wevers, RA
    [J]. MAGNETIC RESONANCE IN MEDICINE, 2001, 46 (05) : 1014 - 1017
  • [9] Principal component analysis of urine metabolites detected by NMR and DESI–MS in patients with inborn errors of metabolism
    Zhengzheng Pan
    Haiwei Gu
    Nari Talaty
    Huanwen Chen
    Narasimhamurthy Shanaiah
    Bryan E. Hainline
    R. Graham Cooks
    Daniel Raftery
    [J]. Analytical and Bioanalytical Chemistry, 2007, 387 : 539 - 549
  • [10] 1H-NMR spectroscopy of body fluids:: Inborn errors of purine and pyrimidine metabolism
    Wevers, RA
    Engelke, UFH
    Moolenaar, SH
    Brautigam, C
    de Jong, JGN
    Duran, R
    de Abreu, RA
    van Gennip, AH
    [J]. CLINICAL CHEMISTRY, 1999, 45 (04) : 539 - 548
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