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Case Report

Distal renal tubular acidosis associated with large vestibular aqueduct and sensorineural hearing loss

, MD, &
Pages 667-670 | Received 01 Oct 2004, Published online: 08 Jul 2009

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Read on this site (5)

Wenfang Sun, Qiong Liang, Shaojing Kuang, Shitong Zhou & Wuqing Wang. (2019) 3D-real IR MRI detects serendipity of inner ear in enlarged vestibular aqueduct syndrome. Acta Oto-Laryngologica 139:3, pages 233-237.
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. (2016) Aetiological investigations into sensorineural hearing loss in adults. Hearing, Balance and Communication 14:3, pages 118-124.
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Engin Kose, Seda Sirin Kose, Caner Alparslan, Belde Kasap Demir, Afig Berdeli, Fatma Mutlubas Ozsan, Onder Yavascan & Nejat Aksu. (2014) Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report. Renal Failure 36:5, pages 808-810.
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Takatoshi Yashima, Yoshihiro Noguchi, Yoshiyuki Kawashima, Tatemitsu Rai, Taku Ito & Ken Kitamura. (2010) Novel ATP6V1B1 mutations in distal renal tubular acidosis and hearing loss. Acta Oto-Laryngologica 130:9, pages 1002-1008.
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Silke Steinbach, Steffi-Johanna Brockmeier & >Jan Kiefer. (2006) The large vestibular aqueduct – case report and review of the literature. Acta Oto-Laryngologica 126:8, pages 788-795.
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Articles from other publishers (14)

Marita Antoniadi, Dimitra Lambrou, Fani Mylona, Lina Florentin, Chrysanthi Bili, Constantinos J. Stefanidis & Stavroula Kostaridou. (2023) Neonatal Onset Distal Renal Tubular Acidosis: Description of Two Novel Variants on the ATP6V0A4 Gene and Review of the Literature on Associated Extrarenal Manifestations. Journal of Pediatric Genetics.
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Ezgi Ay, Emre Gurses, Filiz Aslan, Bora Gulhan, Asuman Alniacik, Ali Duzova, Munir Demir Bajin, Levent Sennaroglu, Gulsum Aydan Genc, Fatih Ozaltin & Rezan Topaloglu. (2023) Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis. Audiology and Neurotology 28:5, pages 350-359.
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Mohamed Mohamed Elmoursy. (2022) The incidence of enlarged vestibular aqueduct among hearing-impaired children: hospital-based tertiary care referral center. The Egyptian Journal of Otolaryngology 38:1.
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Sabrina Giglio, Giovanni Montini, Francesco Trepiccione, Giovanni Gambaro & Francesco Emma. (2021) Distal renal tubular acidosis: a systematic approach from diagnosis to treatment. Journal of Nephrology 34:6, pages 2073-2083.
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Andrew J. Griffith & Keiji Honda. 2021. Cummings Pediatric Otolaryngology. Cummings Pediatric Otolaryngology 201 209 .
. (2019) 遺伝性疾患としての内耳奇形の診断. Nippon Jibiinkoka Gakkai Kaiho 123:3, pages 210-216.
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V. Couloigner, C. Vincent, V. Franco, D. Liguoro, E. Schmidt, O. Deguine, M. Nehme & N. Martin Dupont. 2016. Les Maladies Pressionnelles du Labyrinthe. Les Maladies Pressionnelles du Labyrinthe 71 119 .
Yoshihiro Noguchi. (2015) Inner ear anomaly. Equilibrium Research 74:4, pages 247-256.
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Nael M. Shoman, Ravi N. Samy & Daniel I. Choo. 2014. Congenital Malformations of the Head and Neck. Congenital Malformations of the Head and Neck 23 66 .
N Mohebbi, R Vargas‐Poussou, SCA Hegemann, B Schuknecht, AD Kistler, RP Wüthrich & CA Wagner. (2013) Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss . Clinical Genetics 83:3, pages 274-278.
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Rink Nikki, Bitzan Martin, O'Gorman Gus, Nagel Mato, Torban Elena & Goodyer Paul. (2012) Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness. Case Reports in Pediatrics 2012, pages 1-4.
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Xiaohua Li, Yongchuan Chai, Zheng Tao, Lei Li, Zhiwu Huang, Yun Li, Hao Wu & Tao Yang. (2012) Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis. International Journal of Pediatric Otorhinolaryngology 76:1, pages 152-154.
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Elena Andreucci, Benedetta Bianchi, Ilaria Carboni, Giancarlo Lavoratti, Marzia Mortilla, Claudio Fonda, Minna Bigozzi, Maurizio Genuardi, Sabrina Giglio & Ivana Pela. (2009) Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity. Pediatric Nephrology 24:11, pages 2147-2153.
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B Joshua, D M Kaplan, E Raveh, D Lotan & Y Anikster. (2007) Audiometric and imaging characteristics of distal renal tubular acidosis and deafness. The Journal of Laryngology & Otology 122:2, pages 193-198.
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