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Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review

Patient: Male, 31-year-old Final Diagnosis: Bartter syndrome Symptoms: Weakness Medication: — Clinical Procedure: — Specialty: Genetics • Nephrology OBJECTIVE: Unusual clinical course BACKGROUND: Bartter syndrome is a rare genetic disease characterized by hypokalemia, metabolic alkalosis, and hyperr...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Am J Case Rep
Prif Awduron: Elfert, Khaled A., Geller, David S., Nelson-Williams, Carol, Lifton, Richard P., Al-Malki, Hassan, Nauman, Awais
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: International Scientific Literature, Inc. 2020
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7534490/
https://ncbi.nlm.nih.gov/pubmed/32997650
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12659/AJCR.924527
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