Concepedia

Simultaneous quantification of 48 plasma amino acids by liquid chromatography-tandem mass spectrometry to investigate urea cycle disorders

Yongxian Shao, Lu Zhao, Minyan Jiang, Yunting Lin, Xi Yin, Huiying Sheng, Li Liu

Clinica Chimica Acta · 2019 · 24 citations · 34 references

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References

34

Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders

Gregory M. Enns, Susan A. Berry, Gerard T. Berry et al. · New England Journal of Medicine · 2007 · 355 citations · Full text

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Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry

Mohamed S. Rashed, Pinar T. Ozand, Martin P. Bucknall et al. · Pediatric Research · 1995 · 343 citations

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SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

Giuseppe Borsani, Maria Teresa Bassi, Maria Pia Sperandeo et al. · Nature Genetics · 1999 · 265 citations

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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Stefan Kölker, Ángeles García Cazorla, Vassili Valayannopoulos et al. · Journal of Inherited Metabolic Disease · 2015 · 249 citations · Full text

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Fully automated assay for total homocysteine, cysteine, cysteinylglycine, glutathione, cysteamine, and 2-mercaptopropionylglycine in plasma and urine

Anna Pastore, Renato Massoud, Corradino Motti et al. · Clinical Chemistry · 1998 · 242 citations · Full text

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