Literature DB >> 7564241

Diagnosis of a new case of trimethylaminuria using direct proton NMR spectroscopy of urine.

N G Abeling1, A H van Gennip, H D Bakker, A Heerschap, U Engelke, R A Wevers.   

Abstract

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Year:  1995        PMID： 7564241     DOI： 10.1007/BF00711761

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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2.  1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism.

Authors:  R A Wevers; U Engelke; J J Rotteveel; A Heerschap; J G De Jong; N G Abeling; A H van Gennip; R A de Abreu
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

3.  Trimethylaminuria: causes and diagnosis of a socially distressing condition.

Authors:  Richard J Mackay; Christopher J McEntyre; Caroline Henderson; Michael Lever; Peter M George
Journal:  Clin Biochem Rev       Date:  2011-02

4.  Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1H NMR spectroscopy and genetic testing.

Authors:  Nadia Bouchemal; Lisa Ouss; Anaïs Brassier; Valérie Barbier; Stéphanie Gobin; Laurence Hubert; Pascale de Lonlay; Laurence Le Moyec
Journal:  Orphanet J Rare Dis       Date:  2019-09-18       Impact factor: 4.123
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