No abstract available
MeSH terms
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Acidosis, Renal Tubular / diagnosis*
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Acidosis, Renal Tubular / therapy
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Child
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Follow-Up Studies
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Genetic Predisposition to Disease
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Humans
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Infant
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Male
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Mutation, Missense
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Oculocerebrorenal Syndrome / diagnosis*
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Rare Diseases
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Risk Assessment
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Sampling Studies
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Telangiectasia, Hereditary Hemorrhagic / diagnosis*
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Telangiectasia, Hereditary Hemorrhagic / therapy