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Items: 1 to 20 of 197

1.

1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism.

Wevers RA, Engelke UF, Moolenaar SH, Bräutigam C, de Jong JG, Duran R, de Abreu RA, van Gennip AH.

Clin Chem. 1999 Apr;45(4):539-48.

2.

N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism.

Engelke UF, Liebrand-van Sambeek ML, de Jong JG, Leroy JG, Morava E, Smeitink JA, Wevers RA.

Clin Chem. 2004 Jan;50(1):58-66.

3.

Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry.

Hartmann S, Okun JG, Schmidt C, Langhans CD, Garbade SF, Burgard P, Haas D, Sass JO, Nyhan WL, Hoffmann GF.

Clin Chem. 2006 Jun;52(6):1127-37.

4.

Purine and pyrimidine metabolites in children's urine.

Vidotto C, Fousert D, Akkermann M, Griesmacher A, Müller MM.

Clin Chim Acta. 2003 Sep;335(1-2):27-32.

PMID:
12927681
5.

Disorders of purine and pyrimidine metabolism.

Nyhan WL.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):25-33. Review.

PMID:
16176880
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8.

Uric acid changes in urine and plasma: an effective tool in screening for purine inborn errors of metabolism and other pathological conditions.

Simoni RE, Gomes LN, Scalco FB, Oliveira CP, Aquino Neto FR, de Oliveira ML.

J Inherit Metab Dis. 2007 Jun;30(3):295-309. Review.

PMID:
17520339
9.

Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic resonance spectroscopy.

Oostendorp M, Engelke UF, Willemsen MA, Wevers RA.

Clin Chem. 2006 Jul;52(7):1395-405.

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1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism.

Wevers RA, Engelke U, Rotteveel JJ, Heerschap A, De Jong JG, Abeling NG, van Gennip AH, de Abreu RA.

J Inherit Metab Dis. 1997 Jul;20(3):345-50. No abstract available.

PMID:
9266352
13.
14.

Inborn errors of purine and pyrimidine metabolism.

Jurecka A.

J Inherit Metab Dis. 2009 Apr;32(2):247-63. doi: 10.1007/s10545-009-1094-z. Review.

PMID:
19291420
15.

[Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis].

Diogo L, Proença T, Garcia P, Olveira C, Simmonds A.

Acta Med Port. 2004 Jan-Feb;17(1):67-9. Portuguese.

16.

When and how does one search for inborn errors of purine and pyrimidine metabolism?

Simmonds HA.

Pharm World Sci. 1994 Apr 15;16(2):139-48. Review.

PMID:
8032339
17.
18.

Proton nuclear magnetic resonance spectroscopy of body fluids in the field of inborn errors of metabolism.

Moolenaar SH, Engelke UF, Wevers RA.

Ann Clin Biochem. 2003 Jan;40(Pt 1):16-24. Review.

PMID:
12542907
19.

Inherited defects of purine and pyrimidine metabolism: laboratory methods for diagnosis.

Duran M, Dorland L, Meuleman EE, Allers P, Berger R.

J Inherit Metab Dis. 1997 Jun;20(2):227-36. Review.

PMID:
9211195
20.

[Screening for disorders of purine and pyrimidine metabolism].

van Gennip AH.

Tijdschr Kindergeneeskd. 1982 Feb;50(1):30-1. Dutch. No abstract available.

PMID:
7089954

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