Kidney International · 2005 · 184 citations · 21 references
Life SciencesGeneticsMolecular GeneticsMedical GeneticsMetabolismAllele NomenclatureEnzyme DeficienciesGenetic DisordersPyridoxine TherapyHypermorphic AllelesMutant Allele DisruptionPyridoxine Toxicity
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The metabolic and molecular bases of inherited disease
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Medicine, Neurology, Neuroscience +13
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Epidemiology of primary hyperoxaluria type 1
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