Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants-Reference-Cited by-同舟云学术

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Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants

Published:2022-10 Issue:7 Volume:29 Page:530-533
ISSN:0929-693X
Container-title:Archives de Pédiatrie
language:en
Short-container-title:Archives de Pédiatrie

Author:

D'Angelantonio D.,Majore S.,Di Netta T.,Zotta F.,Parise G.,Savino E.,Rosignoli S.,Bizzarri B.,Signore F.,Grammatico P.,Bottillo I.^ORCID

Funder

Sapienza Università di Roma

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference12 articles.

1. Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European rare kidney disease reference network working group for tubular disorders;Konrad;Kidney Int,2021

2. Two neonates with bartter syndrome;Afzal;J Pak Med Assoc,2018

3. Type 3 antenatal bartter syndrome presenting with mild polyuria;Otsubo;BMJ Case Rep,2021

4. Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects;Seyberth;Pediatr Nephrol,2011

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology;Richards;Genet Med,2015

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