No abstract available
Keywords:
AGXT; oxalate; primary hyperoxaluria; renal failure; seizures.
MeSH terms
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Exome Sequencing
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Fatal Outcome
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Humans
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Hyperoxaluria, Primary / complications*
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Hyperoxaluria, Primary / diagnosis
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Hyperoxaluria, Primary / therapy
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Infant
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Male
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Renal Insufficiency / diagnosis*
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Renal Insufficiency / etiology*
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Seizures / diagnosis*
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Seizures / etiology*
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Transaminases / genetics
Substances
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Transaminases
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Alanine-glyoxylate transaminase
Supplementary concepts
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Primary hyperoxaluria type 1