Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation

Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism

(2018) Irene M. L. W. Körver-Keularts et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

(2018) Karlien L. M. Coene et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A LC-MS/MS Method for Quantifying Adenosine, Guanosine and Inosine Nucleotides in Human Cells

(2016) Leah C. Jimmerson et al.   PHARMACEUTICAL RESEARCH

Urinary metabolomics of young Italian autistic children supports abnormal tryptophan and purine metabolism

(2016) Federica Gevi et al.   Molecular Autism

Factors influencing the crystallization of monosodium urate: a systematic literature review

(2015) Ashika Chhana et al.   BMC MUSCULOSKELETAL DISORDERS

Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots

(2015) Marie Zikanova et al.   CLINICAL BIOCHEMISTRY

Hereditary Orotic Aciduria with Epilepsy and without Megaloblastic Anemia

(2015) Heinz Lauffer et al.   NEUROPEDIATRICS

Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots

(2014) Giancarlo la Marca et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Inborn errors of purine metabolism: clinical update and therapies

(2014) Shanti Balasubramaniam et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Inborn errors of pyrimidine metabolism: clinical update and therapy

(2014) Shanti Balasubramaniam et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers

(2013) Jakub Krijt et al.   CLINICAL BIOCHEMISTRY

Mass spectrometry analysis of nucleosides and nucleotides

(2013) Ed Dudley et al.   MASS SPECTROMETRY REVIEWS

Development of electrospray ionization tandem mass spectrometry methods for the study of a high number of urine markers of inborn errors of metabolism

(2012) M. Maira Rebollido-Fernandez et al.   RAPID COMMUNICATIONS IN MASS SPECTROMETRY

Systematic investigation of ion suppression and enhancement effects of fourteen stable-isotope-labeled internal standards by their native analogues using atmospheric-pressure chemical ionization and electrospray ionization and the relevance for multi-analyte liquid chromatographic/mass spectrometric procedures

(2010) Daniela Remane et al.   RAPID COMMUNICATIONS IN MASS SPECTROMETRY

Orotic aciduria and uridine monophosphate synthase: A reappraisal

(2009) C. J. Bailey   JOURNAL OF INHERITED METABOLIC DISEASE