Metabolomic analyses of Drosophila models for human renal disease [PDF]
, 2012 Inborn errors of metabolism (IEMs) constitute a major class of genetic disorder. Most of IEMs are transmitted recessively, so consanguinity has a huge impact on disease prevalence, particularly in societies like Saudi Arabia, where consanguineous ...
Hobani, Yahya Hasan
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A pragmatic approach to the diagnosis of inborn errors of metabolism in developing countries. [PDF]
Afr J Lab Med, 2023 Anetor JI, Orimadegun BE, Anetor GO.
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Inborn Errors of Metabolism: A Comprehensive Clinical Review and Case-Based Analysis of Metabolic Disorders Across Multiple Biochemical Pathways [PDF]
Background: Inborn errors of metabolism (IEMs) represent a diverse group of genetic disorders affecting various metabolic pathways, with an estimated collective incidence of 1 in 2,500 live births.
Manjusha Hivre
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Inborn Errors of Purine Salvage and Catabolism. [PDF]
Metabolites, 2023 Camici M +6 more
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El tamizaje metabólico en el diagnóstico de los errores innatos del metabolismo [PDF]
, 2008 Clinical manifestations of inherited inborn errors can manifest themselves from birth to adulthood. However, many disorders can be treated if an early diagnosis is performed, in order to avoid severe lesions in some organic systems.
Landázuri, Patricia +2 more
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A Caenorhabditis elegans model of adenylosuccinate lyase deficiency reveals neuromuscular and reproductive phenotypes of distinct etiology. [PDF]
Mol Genet Metab, 2023 Fenton AR +8 more
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Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations. [PDF]
Orphanet J Rare Dis, 2023 Slenter DN +5 more
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Modeling Uric Acid Kidney Stones Disease in D. melanogaster using RNAi and Dietary Modulation [PDF]
, 2015 In humans, the major predictor for gout and forming uric acid kidney stones is elevated uric acid in the serum and urine respectively. It is known that uric acid is an end metabolite of purine degradation in humans, but in other species from D ...
Lu, Hai T.H.
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