Gene/Protein
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Drug
Enzyme
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Pivot Concepts:
Gene/Protein
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Drug
Enzyme
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Target Concepts:
Gene/Protein
Disease
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Query: UMLS:C0038220 (
status epilepticus
)
7,272
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Bartter syndrome is a rare hereditary (
autosomal recessive)
salt-losing tubulopathy characterized by hypokalemia, hypochloremia, metabolic alkalosis, and normal blood pressure with hyperreninemia, The underlying renal abnormality results in excessive urinary losses of sodium, chloride, and potassium. We report a case of a four-month-old infant with neonatal Bartter syndrome, who presented only with
status epilepticus
. To the best of our present knowledge, there is no reported case of Bartter syndrome who presented with
status epilepticus
.
...
PMID:Status epilepticus as the only presentation of the neonatal Bartter syndrome. 2247 Aug 74