Uric acid, an important screening tool to detect inborn errors of metabolism: a case series

BACKGROUND: Uric acid is the metabolic end product of purine metabolism in humans. Altered serum and urine uric acid level (both above and below the reference ranges) is an indispensable marker in detecting rare inborn errors of metabolism. We describe different case scenarios of 4 Sri Lankan patien...

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Detalles Bibliográficos
Autores principales: Jasinge, Eresha, Kularatnam, Grace Angeline Malarnangai, Dilanthi, Hewa Warawitage, Vidanapathirana, Dinesha Maduri, Jayasena, Kandana Liyanage Subhashinie Priyadarshika Kapilani Menike, Chandrasiri, Nambage Dona Priyani Dhammika, Indika, Neluwa Liyanage Ruwan, Ratnayake, Pyara Dilani, Gunasekara, Vindya Nandani, Fairbanks, Lynette Dianne, Stiburkova, Blanka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588617/
https://www.ncbi.nlm.nih.gov/pubmed/28877755
http://dx.doi.org/10.1186/s13104-017-2795-2

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