Literature DB >> 24978391

The case | Renal tubular acidosis and eye findings.

Jameela A Kari1, Sherif M El Desoky1, Ajay K Singh2, Mamdooh A Gari3, Robert Kleta4, Detlef Bockenhauer4.   

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Year:  2014        PMID： 24978391     DOI： 10.1038/ki.2013.320

Source DB:  PubMed          Journal:  Kidney Int        ISSN： 0085-2538            Impact factor:   10.612


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  8 in total

1.  Epilepsy, status epilepticus, and hemiplegic migraine coexisting with a novel SLC4A4 mutation.

Authors:  Sara Gil-Perotín; Teresa Jaijo; Andrés G Verdú; Pilar Rubio; Miguel Mazón; Raquel Gasqué-Rubio; Samuel Díaz
Journal:  Neurol Sci       Date:  2021-01-13       Impact factor: 3.307

Review 2.  Salt-Losing Tubulopathies in Children: What's New, What's Controversial?

Authors:  Robert Kleta; Detlef Bockenhauer
Journal:  J Am Soc Nephrol       Date:  2017-12-13       Impact factor: 10.121

3.  Extrarenal Signs of Proximal Renal Tubular Acidosis Persist in Nonacidemic Nbce1b/c-Null Mice.

Authors:  Emily E Salerno; Sangita P Patel; Aniko Marshall; Jordan Marshall; Thamer Alsufayan; Cheikh S Alassane Mballo; Bianca N Quade; Mark D Parker
Journal:  J Am Soc Nephrol       Date:  2019-04-30       Impact factor: 10.121

4.  A novel mutant Na+ /HCO3- cotransporter NBCe1 in a case of compound-heterozygous inheritance of proximal renal tubular acidosis.

Authors:  Evan J Myers; Lu Yuan; Melanie A Felmlee; Yuan-Yuan Lin; Yan Jiang; Yu Pei; Ou Wang; Mei Li; Xiao-Ping Xing; Aniko Marshall; Wei-Bo Xia; Mark D Parker
Journal:  J Physiol       Date:  2016-08-02       Impact factor: 5.182

Review 5.  Mouse models of SLC4-linked disorders of HCO3--transporter dysfunction.

Authors:  Mark D Parker
Journal:  Am J Physiol Cell Physiol       Date:  2018-01-31       Impact factor: 4.249

6.  The role of disease-linked residue glutamine-913 in support of the structure and function of the human electrogenic sodium/bicarbonate cotransporter NBCe1-A.

Authors:  Evan J Myers; Aniko Marshall; Mark D Parker
Journal:  Sci Rep       Date:  2018-02-15       Impact factor: 4.379

7.  SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report.

Authors:  Shoko Horita; Enver Simsek; Tulay Simsek; Nilgun Yildirim; Hiroyuki Ishiura; Motonobu Nakamura; Nobuhiko Satoh; Atsushi Suzuki; Hiroyuki Tsukada; Tomohito Mizuno; George Seki; Shoji Tsuji; Masaomi Nangaku
Journal:  BMC Med Genet       Date:  2018-06-18       Impact factor: 2.103

Review 8.  Tubulopathy meets Sherlock Holmes: biochemical fingerprinting of disorders of altered kidney tubular salt handling.

Authors:  Detlef Bockenhauer; Robert Kleta
Journal:  Pediatr Nephrol       Date:  2021-06-18       Impact factor: 3.714
  8 in total

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